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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP6V0A2

Variant:p.R819C

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ATP6V0A2

NM_012463.4:p.R819C

hg38:chr12:123756976 C>T

Associated Papers

Rare gelastic seizure associated with ATP6V0A2 gene variants in a patient with ARCLII.

Zhang X et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2024

38953559 (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."