Varaico: Literature-Extracted Genetic Variants

Gene:VPS13D
Variant:p.L3492fs
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VPS13D

NM_015378.4:p.L3492fs

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

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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."