A novel homozygous mutation of DARS2 may cause a severe LBSL variant.
Miyake N; Yamashita S; Kurosawa K; Miyatake S; Tsurusaki Y; Doi H; Saitsu H; Matsumoto N; Clinical Genetics, 2011, vol. 80, issue 3, p 293, ISSN 13990004. ISBN 13990004.

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