Varaico: Literature-Extracted Genetic Variants

Gene:VPS13D
Variant:p.R3130*
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VPS13D

NM_015378.4:p.R3130*

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

New Case of Spinocerebellar Ataxia, Autosomal Recessive 4, Due to VPS13D Variants.

Kistol D et al.

International Journal of Molecular Sciences, 2024

Comprehensive establishment and characterization of orthoxenograft mouse models of malignant peripheral nerve sheath tumors for personalized medicine.

Castellsagué J et al.

Embo Molecular Medicine, 2015

25810463 (PubMed )
Supplement: emmm0007-0608-sd2.xlsx › MPNST-SP-002_SNV
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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."