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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNB1

Variant:p.L338F

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KCNB1

NM_004975.4:p.L338F

hg38:chr20:49374548 G>A

Associated Papers

De novo KCNB1 missense variant causing developmental and epileptic encephalopathy: Two case reports.

Ren Y et al.

Medicine, 2025

39792727 (PubMed )

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