Varaico: Literature-Extracted Genetic Variants

Gene:VPS13D
Variant:p.R260W
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VPS13D

NM_015378.4:p.R260W

Associated Papers

Clinical, genetic, and neuroimaging profiles of autosomal recessive spinocerebellar ataxia type 4 caused by novel VPS13D variants in Chinese.

Dong Y et al.

American Journal of Medical Genetics. Part A, 2024

Autosomal recessive spinocerebellar ataxia type 4 with a VPS13D mutation: A case report.

Huang X et al.

World Journal of Clinical Cases, 2022

Distinct molecular profile of diffuse cerebellar gliomas.

Nomura M et al.

Acta Neuropathologica, 2017

28852847 (PubMed )
Supplement: 401_2017_1771_MOESM2_ESM.xlsx › Table_S6

De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability.

McCarthy SE et al.

Molecular Psychiatry, 2014

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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."