Varaico: Literature-Extracted Genetic Variants

Gene:VPS13A
Variant:p.Y2009Y
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VPS13A

NM_033305.3:p.Y2009Y

Associated Papers

Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis.

Dobson-Stone C et al.

Neurogenetics, 2005

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.

Dobson-Stone C et al.

European Journal of Human Genetics : Ejhg, 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."