Varaico: Literature-Extracted Genetic Variants

Gene:VCP
Variant:p.P118L
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VCP

NM_007126.5:p.P118L

Associated Papers

Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.

Schiava M et al.

Neurology. Genetics, 2023

Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis.

Pfeffer G et al.

Genes, 2022

A Novel Mutation (D395A) in Valosin-Containing Protein Gene Is Associated With Early Onset Frontotemporal Dementia in an Italian Family.

Bruno F et al.

Frontiers in Genetics, 2021

Novel VCP mutations expand the mutational spectrum of frontotemporal dementia.

Saracino D et al.

Neurobiology of Aging, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."