Varaico: Literature-Extracted Genetic Variants

Gene:KCNB2
Variant:p.R304Q
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KCNB2

NM_004770.3:p.R304Q

Associated Papers

Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.

Bhat S et al.

American Journal of Human Genetics, 2024

Exome-wide somatic mutation characterization of small bowel adenocarcinoma.

Hänninen UA et al.

Plos Genetics, 2018

29522538 (PubMed )
Supplement: pgen.1007200.s003.xlsx › b
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."