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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VPS13A

Variant:p.R3026Splc

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VPS13A

NM_033305.3:p.R3026Splc

hg38:chr9:77381843 A>G

Associated Papers

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

Dobson-Stone C et al.

Neurogenetics, 2005

15918062 (PubMed )

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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."