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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CACNA1S

Variant:p.L1243V

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CACNA1S

NM_000069.3:p.L1243V

hg38:chr1:201053527 G>C

Associated Papers

Hypokalemic Periodic Paralysis Associated With a Rare CACNA1S Variant (p.Leu1243Val): Expanding the Mutational Spectrum.

Nader MA

Case Reports in Genetics, 2026

41551049 (PubMed )

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