Varaico: Literature-Extracted Genetic Variants

Gene:KCTD3
Variant:p.R398*
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KCTD3

NM_016121.5:p.R398*

Associated Papers

Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features.

Shimojima Yamamoto K et al.

Human Genome Variation, 2023

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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."