| 1 | IL2RG, PPP1R12C
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| Chromosomal translocations induced at specified loci in human stem cells.
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| Brunet E, Simsek D, Tomishima M, DeKelver R, Choi VM, Gregory P, Urnov F, Weinstock DM, Jasin M.
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| Proc Natl Acad Sci U S A 106(26):10620-5. Epub 2009 Jun 23.PMID: 19549848 2009
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| 2 | IL2RG
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| Structure of the quaternary complex of interleukin-2 with its alpha, beta, and gammac receptors.
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| Wang X, Rickert M, Garcia KC.
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| Science 310(5751):1159-63. 2005
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| 3 | IL2RG, SCIDX1
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| A novel splice-site mutation in the common gamma chain (gammac) gene IL2RG results in X-linked severe combined immunodeficiency with an atypical NK+ phenotype.
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| Ginn SL, Smyth C, Wong M, Bennetts B, Rowe PB, Alexander IE.
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| Hum Mutat 23(5):522-3. 2004
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| 4 | IL2RG, SCIDX1
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| Characterization of the gammac chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID).
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| Kumaki S, Ishii N, Minegishi M, Ohashi Y, Hakozaki I, Nonoyama S, Imai K, Morio T, Tsuge I, Sakiyama Y, Miyanoshita A, Miura J, Mayumi M, Heike T, Katamura K, Takada H, Izumi I, Kamizono J, Hibi S, Sasaki H, Kimura M, Kikuta A, Date Y, Sako M, Tanaka H, Sano K, Sugamura K, Tsuchiya S.
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| Hum Genet 107(4):406-8. 2000
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| 5 | IL2RG, SCIDX1
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| A G to A transition at the last nucleotide of exon 6 of the gamma c gene (868G->A) may result in either a splice or missense mutation in patients with X-linked severe combined immunodeficiency.
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| Kanai N, et al.
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| Hum Genet 104 : 36-42. 1999
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| 6 | IL2RG, SCIDX1
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| Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency.
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| Puck JM, et al.
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| Blood 89 : 1968-1977. 1997
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| 7 | IL2RG, SCIDX1
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| B-cell-negative severe combined immunodeficiency associated with a common gamma chain mutation.
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| Jones AM, Clark PA, Katz F, Genet S, McMahon C, Alterman L, Cant A, Kinnon C.
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| Hum Genet 99(5):677-80. 1997
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| 8 | IL2RG, SCIDX1
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| Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.
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| Puck JM, et al.
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| J Clin Invest 95 : 895-899. 1995
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| 9 | IL2RG, SCIDX1
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| Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency.
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| Schmalstieg FC, et al.
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| J Clin Invest 95 : 1169-1173. 1995
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| 10 | SCIDX1, IL2RG
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| Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency.
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| Tassara C, et al.
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| Hum Mol Genet 4 : 1693-1695. 1995
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| 11 | IL2RG, SCIDX1
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| Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency.
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| Pepper AE, et al.
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| Am J Hum Genet 57 : 564-571. 1995
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| 12 | IL2RG, SCIDX1
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| Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing.
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| Markiewicz S, et al.
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| Genomics 21 : 291-293. 1994
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| 13 | IL2RB, IL2RG
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| Cytoplasmic domains of the interleukin-2 receptor beta and gamma chains mediate the signal for t-cell proliferation.
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| Nelson BH, et al.
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| Nature 369 : 333-336. 1994
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| 14 | IL2RG, SCIDX1
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| Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells.
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| DiSanto JP, et al.
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| Proc Natl Acad Sci U S A 91 : 9466-9470. 1994
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| 15 | IL2RG
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| Sharing of the interleukin-2 (IL-2) receptor gamma chain between receptors for IL-2 and IL-4.
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| Kondo M, et al.
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| Science 262 : 1874-1877. 1993
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| 16 | IL2RG
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| Interleukin-2 receptor gamma chain : a functional component of the interleukin-4 receptor.
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| Russell SM, et al.
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| Science 262 : 1880-1883. 1993
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| 17 | IL2RG
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| Interleukin-2 receptor gamma chain : a functional component of the interleukin-7 receptor.
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| Noguchi M, et al.
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| Science 262 : 1877-1880. 1993
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| 18 | IL2RG
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| Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans.
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| Noguchi M, et al.
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| Cell 73 : 147-157. 1993
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| 19 | IL2RG
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| The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1.
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| Puck JM, et al.
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| Hum Mol Genet 2 : 1099-1104. 1993
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| 20 | IL2RG
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| Characterization of cDNAs encoding the murine interleukin 2 receptor (IL-2R) upsilon chain : chromosomal mapping and tissue specificity of IL-2R upsilon chain expression.
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| Cao X, et al.
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| Proc Natl Acad Sci U S A 90 : 8464-8468. 1993
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| 21 | IL2RG
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| Characterization of the human interleukin-2 receptor gamma chain gene.
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| Noguchi M, et al.
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| J Biol Chem 268 : 13601-13608. 1993
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