Varaico: Literature-Extracted Genetic Variants

Gene:VCP
Variant:p.S171R
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VCP

NM_007126.5:p.S171R

Associated Papers

2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy.

Peck A et al.

Neurobiology of Disease, 2025

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

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

The Cure VCP Scientific Conference 2021: Molecular and clinical insights into neurodegeneration and myopathy linked to multisystem proteinopathy-1 (MSP-1).

Johnson MA et al.

Neurobiology of Disease, 2022

Phenotypic convergence in Charcot-Marie-Tooth 2Y with novel VCP mutation.

Gite J et al.

Neuromuscular Disorders : Nmd, 2020

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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."