Varaico: Literature-Extracted Genetic Variants

Gene:POLR3A
Variant:p.E1143del1
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POLR3A

NM_007055.4:p.E1143del1

Associated Papers

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

Wambach JA et al.

American Journal of Human Genetics, 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."