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

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Authors

Marianela Schiava · Johns Hopkins University

Chiseko Ikenaga · Johns Hopkins University

Ana Töpf · Johns Hopkins University

Marta Caballero‐Ávila · Johns Hopkins University

Tsui‐Fen Chou · Johns Hopkins University

Shan Li · Johns Hopkins University

Feng Wang ·

Abstract

This study provides data to support pathogenicity of 14 of 19 novel <i>VCP</i> variants and provides guidance for clinicians in the evaluation of novel variants in the <i>VCP</i> gene.

Topics & Keywords

Neurological diseases and metabolism Endoplasmic Reticulum Stress and Disease Hereditary Neurological Disorders

UN Sustainable Development Goals

Partnerships for the goals

Publication Details

Published in: Neurology Genetics

Volume 9, Issue 5, pp. e200093-e200093

DOI: 10.1212/nxg.0000000000200093

Field-Weighted Citation Impact: 1.11