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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNMA1

Variant:p.N536Y

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KCNMA1

NM_001161352.2:p.N536Y

hg38:chr10:77073240 T>A

Associated Papers

Identification of a new gain-of-function variant p.N536Y of KCNMA1 associated with PNKD3 in the Chinese population.

Huang Y et al.

Acta Physiologica (oxford, England), 2025

40167379 (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."