Varaico: Literature-Extracted Genetic Variants

Gene:VPS13D
Variant:p.T2896M
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VPS13D

NM_015378.4:p.T2896M

Associated Papers

VPS13D-Related Disorders: Description of New Variant and Phenotypic Spectrum Based on Age of Onset.

de Mendonça RS et al.

Cerebellum (london, England), 2025

VPS13D-related disorders: a severe case, review, and genotype-phenotype correlation.

Liu WL et al.

Neurocase, 2025

Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.

Kistol D et al.

International Journal of Molecular Sciences, 2023

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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."