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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNMA1

Variant:p.R707G

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KCNMA1

NM_001161352.2:p.R707G

hg38:chr10:77001554 T>C

Associated Papers

CSMD1 as a causative gene of developmental and epileptic encephalopathy and generalized epilepsies.

Zhang W et al.

Genes & Diseases, 2025

40330149 (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."