Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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Reference

Title Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.
Authors Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK et al.
Reference Nat Genet 35: 185-189, 2003 (PubMed ID: 14517542 )
CTDP1: (Leu287fs)
Mutations

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