Varaico: Literature-Extracted Genetic Variants

Gene:VPS13A
Variant:p.V2738fs
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VPS13A

NM_033305.3:p.V2738fs

Associated Papers

Compound Heterozygous VPS13A Variants in a Patient with Neuroacanthocytosis: A Case Report and Review of the Literature.

Kim A et al.

Laboratory Medicine, 2022

Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement.

Vaisfeld A et al.

Genes, 2021

Discriminating chorea-acanthocytosis from Huntington's disease with single-case voxel-based morphometry analysis.

Suzuki F et al.

Journal of the Neurological Sciences, 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."