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Reference

Title Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
Authors Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Hörl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K
Reference Nat Genet 36: 271-276, 2004 (PubMed ID: 14981520 )
BSCL2: (Asn88Ser) (Ser90Leu)
Mutations

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