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Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy.

Pubmed ID: 
30737337
Year: 
2019
Month: 
Mar
Volume: 
92
Issue: 
11
Citation: 
van der Knaap MS, Bugiani M, Mendes MI, Riley LG, Smith DEC, Rudinger-Thirion J, Frugier M, Breur M, Crawford J, van Gaalen J, Schouten M, Willems M, Waisfisz Q, Mau-Them FT, Rodenburg RJ, Taft RJ, Keren B, Christodoulou J, Depienne C, Simons C, Salomons GS, Mochel F. Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy. NEUROLOGY 92 (11) : e1225 - e1237(2019) PubMed (Grant IDs: APP1068278)