Varaico: Literature-Extracted Genetic Variants

Gene:WDR20
Variant:p.P230S
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WDR20

NM_144574.4:p.P230S

Associated Papers

Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome.

Kim HY et al.

Annals of Laboratory Medicine, 2022

A Missense Mutation A384P Associated with Human Hyperekplexia Reveals a Desensitization Site of Glycine Receptors.

Wang CH et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2018

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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."