Varaico: Literature-Extracted Genetic Variants

Gene:VPS13D
Variant:p.V931I
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VPS13D

NM_015378.4:p.V931I

Associated Papers

Expanding the phenotype of Harel-Yoon syndrome: A case report suggesting a genotype/phenotype correlation.

Abdul-Raheem J 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."