Varaico: Literature-Extracted Genetic Variants

Gene:VPS13A
Variant:p.Y1442*
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VPS13A

NM_033305.3:p.Y1442*

Associated Papers

Physiological and Pathogenesis Significance of Chorein in Health and Disease.

Alkahtani S et al.

Physiological Research, 2024

Identification of four novel mutations in VSP13A in Iranian patients with Chorea-acanthocytosis (ChAc).

Ghodsinezhad V et al.

Molecular Genetics and Genomics : Mgg, 2024

Chorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel VPS13A Mutation.

Weber J et al.

Frontiers in Neurology, 2018

Chorea-acanthocytosis: 3 New Families with Novel Genetic and Metabolic Findings.

Abbas MM et al.

Annals of Indian Academy of Neurology, 0

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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."