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Reference

Title Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V
Authors Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin S-Q, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED
Reference Am J Hum Genet 72: 1293-1299, 2003 (PubMed ID: 12690580 )
GARS: (Glu71Gly) (Leu129Pro) (Gly240Arg) (Gly526Arg)
Mutations

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