Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Publications

Watts GD, Thomasova D, Ramdeen SK, Fulchiero EC, Mehta SG, Drachman DA, Weihl CC, Jamrozik Z, Kwiecinski H, Kaminska A, Kimonis VE. Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia. Clinical Genetics 72: 420-426, 2007 (PubMed ID: 17935506)

Mutations

VCP: (Leu198Trp) (Asn387His)

ID: 481


Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic


Selection:
Publication ID In (481)



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