Varaico: Literature-Extracted Genetic Variants

Gene:VPS13A
Variant:p.K781fs
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VPS13A

NM_033305.3:p.K781fs

Associated Papers

A Novel VPS13A Deletion in VPS13A Disease (Chorea-Acanthocytosis): A Case Report with Brief Literature Summary.

Perrone B et al.

International Journal of Molecular Sciences, 2025

41373679 (PubMed )
Supplement: ijms-26-11521-s001.zip › ijms-3917049-supplementary.pdf
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