Varaico: Literature-Extracted Genetic Variants

Gene:POLR2A
Variant:p.K812*
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POLR2A

NM_000937.5:p.K812*

Associated Papers

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.

Haijes HA et al.

American Journal of Human Genetics, 2019

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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."