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 00099163. ISBN 13990004.

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