Varaico: Literature-Extracted Genetic Variants

Gene:KCNB1
Variant:p.T387N
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KCNB1

NM_004975.4:p.T387N

Associated Papers

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

Ren Y et al.

Medicine, 2025

What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.

Alfares A et al.

Bmc Medical Genomics, 2020

32680510 (PubMed )
Supplement: 12920_2020_743_MOESM3_ESM.xlsx › Sheet1
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