| 1 | COXPD20, VARS2
|
| Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease.
|
| Bruni F, Di Meo I, Bellacchio E, Webb BD, McFarland R, Chrzanowska-Lightowlers ZMA, He L, Skorupa E, Moroni I, Ardissone A, Walczak A, Tyynismaa H, Isohanni P, Mandel H, Prokisch H, Haack T, Bonnen PE, Enrico B, Pronicka E, Ghezzi D, Taylor RW, Diodato D.
|
| Hum Mutat 39(4):563-578. doi: 10.1002/humu.23398. Epub 2018 Feb 7.
2018
|
| 2 | COXPD20, VARS2
|
| Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.
|
| Alsemari A, Al-Younes B, Goljan E, Jaroudi D, BinHumaid F, Meyer BF, Arold ST, Monies D.
|
| Hum Genomics 11(1):28. doi: 10.1186/s40246-017-0124-4. Erratum in: Hum Genomics. 2017 Dec 8;11(1):33.
2017
|
| 3 | COXPD20, VARS2
|
| Neonatal encephalocardiomyopathy caused by mutations in VARS2.
|
| Baertling F, Alhaddad B, Seibt A, Budaeus S, Meitinger T, Strom TM, Mayatepek E, Schaper J, Prokisch H, Haack TB, Distelmaier F.
|
| Metab Brain Dis 32(1):267-270. doi: 10.1007/s11011-016-9890-2. Epub 2016 Aug 8.
2017
|
| 4 | COXPD20, COXPD21, TARS2, VARS2
|
| VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.
|
| Diodato D, Melchionda L, Haack TB, Dallabona C, Baruffini E, Donnini C, Granata T, Ragona F, Balestri P, Margollicci M, Lamantea E, Nasca A, Powell CA, Minczuk M, Strom TM, Meitinger T, Prokisch H, Lamperti C, Zeviani M, Ghezzi D.
|
| Hum Mutat 35(8):983-9. doi: 10.1002/humu.22590. Epub 2014 Jun 24.
2014
|
| 5 | VARS2
|
| VARS2 V552V variant as prognostic marker in patients with early breast cancer.
|
| Chae YS, Lee SJ, Moon JH, Kang BW, Kim JG, Sohn SK, Jung JH, Park HY, Park JY, Kim HJ, Lee SW.
|
| Med Oncol 28(4):1273-80. doi: 10.1007/s12032-010-9574-4. Epub 2010 May 26.
2011
|
| 6 | BTBD9, CCDC85A, CSMD2, CSMD3, FAM111A, FAM65A, FMNL2, GALNT13, GPRIN1, KIAA1919, KLHL32, LENG8, MIS18BP1, NEK1, PKD1L2, PNMA5, RHPN1, SCIN, SSFA2, SYNGAP1, TMEM200A, TUBGCP5, VARS2, WDR40A, ZNF45
|
| Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins.
|
| Nagase T, Kikuno R, Ohara O.
|
| DNA Res 8(4):179-87. 2001
|
| 7 | VARS2
|
| Cloning of the human valyl-tRNA synthetase gene and its location in the major histocompatibility complex on chromosome 6.
|
| Hsieh SL, et al.
|
| (HGM11) Cytogenet Cell Genet 58 : 1912. 1991
|
| 8 | VARS2
|
| Evidence that gene G7a in the human major histocompatibility complex encodes valyl-tRNA synthetase.
|
| Hsieh SL, et al.
|
| Biochem J 278 : 809-816. 1991
|