Varaico: Literature-Extracted Genetic Variants

Gene:VPS13A
Variant:p.E2739*
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VPS13A

NM_033305.3:p.E2739*

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

Physiological and Pathogenesis Significance of Chorein in Health and Disease.

Alkahtani S et al.

Physiological Research, 2024

Novel heterozygous VPS13A pathogenic variants in chorea-neuroacanthocytosis: a case report.

Chen X et al.

Bmc Neurology, 2023

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