Article

KCNMA1 genotype-phenotype correlation and functional validation of novel sites

2026-04-02

Abstract excerpt

<title>Abstract</title> <p> <bold>Objective:</bold> To analyze genotype-phenotype correlations in patients with <italic>KCNMA1</italic> variants and functionally characterize two unreported missense variants: c.853A>T (p.I285F) and c.3196G>A (p.G1066R). <bold>Methods:</bold> We retrospectively reviewed clinical data from six pediatric patients with <italic>KCNMA1</italic> variants. Protein structural mode...

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Literature Corpus work: caed5496-bea7-56c3-aa9d-c053a30a3840
DOI: 10.21203/rs.3.rs-9206140/v1

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