Varaico: Literature-Extracted Genetic Variants

Gene:VCP
Variant:p.A160P
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VCP

NM_007126.5:p.A160P

Associated Papers

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

Schiava M et al.

Neurology. Genetics, 2023

Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1.

Columbres RCA et al.

Genes, 2023

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

Shmara A et al.

Neurology. Genetics, 2023

Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.

Krenn M et al.

European Journal of Neurology, 2022

35239206 (PubMed )
Supplement: ENE-29-1815-s001.xlsx › Supplementary_Table_1

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

Pfeffer G et al.

Genes, 2022

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."