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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNB1

Variant:p.V286fs

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KCNB1

NM_004975.4:p.V286fs

hg38:chr20:49374702 C>CN

Associated Papers

A KCNB1 gain of function variant causes developmental delay and speech apraxia but not seizures.

Veale EL et al.

Frontiers in Pharmacology, 2022

36618935 (PubMed )

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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."