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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VPS13A

Variant:p.F1451fs

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VPS13A

NM_033305.3:p.F1451fs

hg38:chr9:77314603 TTC>N

Associated Papers

Chorea-Acanthocytosis Presenting with Parkinsonism-Dystonia without Chorea.

Monfrini E et al.

Movement Disorders Clinical Practice, 2023

37636221 (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."