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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP6V0C

Variant:p.G107R

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ATP6V0C

NM_001694.4:p.G107R

hg38:chr16:2519596 G>C

Associated Papers

Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathy.

Rong M et al.

Epilepsia, 2025

40085430 (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."