Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ4
Variant:p.L281L
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KCNQ4

NM_004700.4:p.L281L

Associated Papers

A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment.

Van Camp G et al.

Human Mutation, 2002

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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."