| 1 | COXPD20, VARS2
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| Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease.
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| 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.
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| Hum Mutat 39(4):563-578. doi: 10.1002/humu.23398. Epub 2018 Feb 7.
2018
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| 2 | COXPD20, VARS2
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| Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.
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| Alsemari A, Al-Younes B, Goljan E, Jaroudi D, BinHumaid F, Meyer BF, Arold ST, Monies D.
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| Hum Genomics 11(1):28. doi: 10.1186/s40246-017-0124-4. Erratum in: Hum Genomics. 2017 Dec 8;11(1):33.
2017
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| 3 | COXPD20, VARS2
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| Neonatal encephalocardiomyopathy caused by mutations in VARS2.
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| Baertling F, Alhaddad B, Seibt A, Budaeus S, Meitinger T, Strom TM, Mayatepek E, Schaper J, Prokisch H, Haack TB, Distelmaier F.
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| Metab Brain Dis 32(1):267-270. doi: 10.1007/s11011-016-9890-2. Epub 2016 Aug 8.
2017
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| 4 | COXPD20, COXPD21, TARS2, VARS2
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| VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.
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| 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.
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| Hum Mutat 35(8):983-9. doi: 10.1002/humu.22590. Epub 2014 Jun 24.
2014
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