Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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Reference

Title Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth Type 4C neuropathy.
Authors Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, Timmerman V, et al.
Reference Am J Hum Genet 73: 1106-1119, 2003 (PubMed ID: 14574644 )
SH3TC2 (KIAA1985): ([Arg9fs]+[Arg9fs]) ([5'-splice site]+[5'-splice site]) ([Arg529Gln]+[Arg529Gln]) ([Arg583fs]+[Arg583fs]) ([Glu657Lys]+[Glu657Lys]) ([Arg658Cys]+[Arg954X]) ([Ser831fs]+[Ser831fs]) ([Tyr943X]+[Arg954X]) ([Arg954X]+[Gln1201X]) ([Pro1114fs]+[Pro1114fs])
Mutations

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