Varaico: Literature-Extracted Genetic Variants

Gene:VCP
Variant:p.G128A
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VCP

NM_007126.5:p.G128A

Associated Papers

Utilization of CoRDS registry to monitor quality of life in patients with VCP multisystem proteinopathy.

Abdoalsadig E et al.

Orphanet Journal of Rare Diseases, 2025

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.

Mah-Som AY et al.

American Journal of Human Genetics, 2023

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

Schiava M et al.

Neurology. Genetics, 2023

Valosin containing protein (VCP): initiator, modifier, and potential drug target for neurodegenerative diseases.

Chu S et al.

Molecular Neurodegeneration, 2023

Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy.

Shmara A et al.

Neurology. Genetics, 2023

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

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

Pfeffer G et al.

Genes, 2022

Phenotype of VCP Mutations in Chinese Amyotrophic Lateral Sclerosis Patients.

Feng SY et al.

Frontiers in Neurology, 2022

The Role of VCP Mutations in the Spectrum of Amyotrophic Lateral Sclerosis-Frontotemporal Dementia.

Scarian E et al.

Frontiers in Neurology, 2022

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.

Ramos EM et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2020

Rare Inherited forms of Paget's Disease and Related Syndromes.

Ralston SH et al.

Calcified Tissue International, 2019

Novel valosin-containing protein mutations associated with multisystem proteinopathy.

Al-Tahan S et al.

Neuromuscular Disorders : Nmd, 2018

Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy.

Al-Obeidi E et al.

Clinical Genetics, 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."