Two Siblings with Homozygous Pathogenic Splice‐Site Variant in Mitochondrial Asparaginyl–tRNA Synthetase (NARS2)

Publisher: John Wiley & Sons Inc

E-ISSN: 1098-1004|36|2|222-231

ISSN: 1059-7794

Source: HUMAN MUTATION, Vol.36, Iss.2, 2015-02, pp. : 222-231

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Abstract