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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNMA1

Variant:p.R643Splc

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KCNMA1

NM_001161352.2:p.R643Splc

hg38:chr10:77025452 C>T

Associated Papers

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Laurie S et al.

Nature Medicine, 2025

39825153 (PubMed )

Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing

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