Varaico: Literature-Extracted Genetic Variants

Gene:VCP
Variant:p.I126V
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VCP

NM_007126.5:p.I126V

Associated Papers

VCP-related myopathy: a case series and a review of literature.

Iannibelli E et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2023

Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.

Schiava M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2022

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

Pfeffer G et al.

Genes, 2022

Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy.

Inoue M et al.

Human Genome Variation, 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."