Varaico: Literature-Extracted Genetic Variants

Gene:VPS13A
Variant:p.S1452P
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VPS13A

NM_033305.3:p.S1452P

Associated Papers

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

Ghodsinezhad V et al.

Molecular Genetics and Genomics : Mgg, 2024

Chorein detection for the diagnosis of chorea-acanthocytosis.

Dobson-Stone C et al.

Annals of Neurology, 2004

Clinical features and molecular bases of neuroacanthocytosis.

Rampoldi L et al.

Journal of Molecular Medicine (berlin, Germany), 2002

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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."