| 1 | AVPR2, DIR1
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| Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus.
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| Li Q, Tian D, Cen J, Duan L, Xia W.
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| J Endocrinol Invest. Dec;44(12):2777-2783. doi: 10.1007/s40618-021-01607-3. Epub 2021 Jun 8. 2021
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| 2 | AVPR2, DIR1
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| Hereditary Nephrogenic Diabetes Insipidus: Pathophysiology and Possible Treatment. An Update. 2017 PMID:
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| Milano S, Carmosino M, Gerbino A, Svelto M, Procino G.
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| Int J Mol Sci. Nov 10;18(11):2385. doi: 10.3390/ijms18112385. 2017
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| 3 | AVPR2, DIR1
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| V2 vasopressin receptor (V2R) mutations in partial nephrogenic diabetes insipidus highlight protean agonism of V2R antagonists.
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| Takahashi K, Makita N, Manaka K, Hisano M, Akioka Y, Miura K, Takubo N, Iida A, Ueda N, Hashimoto M, Fujita T, Igarashi T, Sekine T, Iiri T.
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| J Biol Chem 287(3):2099-106. Epub 2011 Dec 5.
2012
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| 4 | ARHGAP4, AVPR2, DIR1
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| A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability.
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| Huang L, Poke G, Gecz J, Gibson K.
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| Am J Med Genet A 158A(10):2511-8. doi: 10.1002/ajmg.a.35591. Epub 2012 Sep 10.
2012
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| 5 | AVPR2, DIR1
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| A novel AVPR2 missense mutation in a Chinese boy with severe inherited nephrogenic diabetes insipidus.
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| Huang L, Li W, Tang W, Lu G.
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| J Pediatr Endocrinol Metab 24(9-10):807-9.
2011
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| 6 | ARHGAP4, AVPR2, DIR1, HSAS, L1CAM
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| Nephrogenic diabetes insipidus in a patient with L1 syndrome: a new report of a contiguous gene deletion syndrome including L1CAM and AVPR2.
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| Knops NB, Bos KK, Kerstjens M, van Dael K, Vos YJ.
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| Am J Med Genet A 146A(14):1853-8. 2008
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| 7 | DIR1, L1CAM, AVPR2, HSAS
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| Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus.
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| Tegay DH, Lane AH, Roohi J, Hatchwell E.
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| Am J Med Genet A 143(6):594-8. 2007
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| 8 | AVPR2, DIR1
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| Correlation between AVPR2 mutations and urinary AQP2 excretion in patients with nephrogenic diabetes insipidus.
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| Kotnik P, Battelino T, Debeljak M, Podkrajsek KT, Waldhauser F, Frøkiaer J, Nielsen S, Krzisnik C.
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| J Pediatr Endocrinol Metab 20(4):483-9.
2007
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| 9 | AQP2, AVPR2, DIR1
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| Nephrogenic diabetes insipidus.
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| Bichet DG.
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| Adv Chronic Kidney Dis 13(2):96-104. Review.
2006
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| 10 | ARHGAP4, AVPR2, DIR1, NAA10
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| Severe combined immunodeficiency associated with nephrogenic diabetes insipidus and a deletion in the Xq28 region.
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| Broides A, Ault BH, Arthus MF, Bichet DG, Conley ME.
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| Clin Immunol 120(2):147-55. Epub 2006 Jun 15. 2006
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| 11 | ARHGAP4, AVPR2, DIR1
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| Two novel types of contiguous gene deletion of the AVPR2 and ARHGAP4 genes in unrelated Japanese kindreds with nephrogenic diabetes insipidus.
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| Demura M, Takeda Y, Yoneda T, Furukawa K, Usukura M, Itoh Y, Mabuchi H.
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| Hum Mutat 19(1):23-9. 2002
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| 12 | AVPR2, DIR1
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| Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients.
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| Chen CH, Chen WY, Liu HL, Liu TT, Tsou AP, Lin CY, Chao T, Qi Y, Hsiao KJ.
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| J Hum Genet 47(2):66-73.
2002
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| 13 | AQP2, AVPR2, DIR1, DIR2
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| Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic diabetes insipidus.
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| Rocha JL, et al.
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| Hum Mutat 14(3):233-239 1999
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| 14 | AVPR2, DIR1
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| V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms.
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| Schneberg T, et al.
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| Hum Mutat 12 : 196-205. 1998
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| 15 | AVPR2, DIR1
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| Six novel mutations in the vasopressin V2 receptor gene causing nephrogenic diabetes insipidus.
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| Cheong HI, et al.
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| Nephron 75 : 431-437. 1997
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| 16 | AVPR2, DIR1
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| An X-linked NDI mutation reveals a requirement for cell surface V2R expression.
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| Sadeghi HM, Innamorati G, Birnbaumer M.
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| Mol Endocrinol 11(6):706-13. 1997
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| 17 | AVPR2, DIR1
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| Functional characterization of five V2 vasopressin receptor gene mutations.
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| Wenkert D, et al.
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| Mol Cell Endocrinol 124 : 43-50. 1996
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| 18 | DIR1, AVPR2
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| Binding-, intracellular transport-, and bioosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus.
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| Tsukaguchi H, et al.
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| J Clin Invest 96 : 2043-2050. 1995
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| 19 | DIR1, AVPR2
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| Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutation.
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| van Lieburg AF, et al.
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| Hum Genet 96 : 70-78. 1995
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| 20 | AVPR2, DIR1
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| Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus.
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| Wenkert D, et al.
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| Hum Mol Genet 3 : 1429-1430. 1994
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| 21 | DIR1, AVPR2
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| Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus.
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| Faa V, et al.
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| Hum Mol Genet 3 : 1685-1886. 1994
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| 22 | AVPR2, DIR1
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| Nephrogenic diabetes insipidus : an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal.
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| Friedman E, et al.
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| Proc Natl Acad Sci U S A 91 : 8457-8461. 1994
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| 23 | DIR1, AVPR2
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| Identification of eight new mutations in familial neurogenic diabetes insipidus supports the concept that defective folding of the mutant provasopressin-neurophysin causes the disease. (abstr)
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| Rittig S, et al.
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| Am J Hum Genet 55 : A239. 1994
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| 24 | AVPR2,DIR1
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| Two novel mutations in the vasopressin V2 receptor gene in unrelated japanese kindreds with nephrogenic diabetes insipidus.
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| Tsukaguchi H, et al.
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| Biochem Biophys Res Commun 197 : 1000-1010. 1993
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| 25 | AVPR2, DIR1
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| A molecular defect in the vasopressin V2-receptor gene causing nephrogenic diabetes insipidus.
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| Holtzman EJ, et al.
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| N Engl J Med 328 : 1534-1537. 1993
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| 26 | AVPR2, DIR1
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| A mutation in the vasopressin V2-receptor gene in a kindred with X-linked nephrogenic diabetes insipidus.
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| Merendino JJ, et al.
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| N Engl J Med 328 : 1538-1541. 1993
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| 27 | AVPR2, DIR1
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| A null mutation in the vasopressin V2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus in the hopewell kindred.
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| Holtzman EJ, et al.
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| Hum Mol Genet 2 : 1201-1204. 1993
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| 28 | AVPR2, DIR1
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| Nephrogenic diabetes insipidus. A V2 vasopressin receptor unable to stimulate adenylyl cyclase.
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| Rosenthal W, et al.
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| J Biol Chem 268 : 13030-13033. 1993
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| 29 | DIR1, AVPR2
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| Colocalization of the gene for nephrogenic diabetes insipidus (DIR) and the vasopressin type 2 receptor gene (AVPR2) in the Xq28 region.
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| van den Ouweland AMW, et al.
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| Genomics 13 : 1350-1352. 1992
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| 30 | DIR1, AVPR2
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| Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus.
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| Rosenthal W, et al.
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| Nature 359 : 233-235. 1992
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| 31 | DIR1, AVPR2
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| A single base substitution in exon 1 of the vasopressin-neurophysin II gene is linked to familial neurogenic diabetes insipidus in a Caucasian kindred.
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| Kovacs L, et al.
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| Am J Hum Genet 51 : A30. 1992
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| 32 | DIR1, AVPR2
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| Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus.
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| Pan Y, et al.
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| Nat Genet 2 : 103-106. 1992
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| 33 | DIR1, AVPR2
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| Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus.
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| Van den Ouweland AMW, et al.
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| Nat Genet 2 : 99-102. 1992
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| 34 | DIR1
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| X-linked nephrogenic diabetes insipidus : from the ship hopewell to RFLP studies.
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| Bichet DG, et al.
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| Am J Hum Genet 51 : 1089-1102. 1992
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| 35 | DIR1
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| Derivatives of somatic hybrids which carry the human gene locus for nephrogenic diabetes insipidus (NDI) express functional vasopressin renal V2-type receptors.
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| Jans DA, et al.
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| J Biol Chem 265 : 15379-15382. 1990
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| 36 | DIR1
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| Three-point linkage analysis using multiple DNA polymorphic markers in families with X-linked nephrogenic diabetes insipidus.
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| Knoers N, et al.
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| Genomics 4 : 434-437. 1989
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| 37 | DIR1, DXS105, DXS134
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| Nephrogenic diabetes insipidus : close linkage with markers from the distal long arm of the human X chromosome.
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| Knoers N, et al.
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| Hum Genet 80 : 31-38. 1988
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| 38 | DIR1
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| Nephrogenic diabetes insipidus linked to Xq28.
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| Kambouris M, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 636. 1987
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| 39 | DIR1
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| Tight linkage between nephrogenic diabetes insipidus and DXS52.
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| Knoers N, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 640. 1987
|