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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNMA1

Variant:p.C550F

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KCNMA1

NM_001161352.2:p.C550F

hg38:chr10:77073197 C>A

Associated Papers

Structural mapping of patient-associated KCNMA1 gene variants.

Moldenhauer HJ et al.

Biophysical Journal, 2024

38042986 (PubMed )

Supplement: mmc1.pdf

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