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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POLR2B

Variant:p.V523E

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POLR2B

NM_000938.3:p.V523E

hg38:chr4:57010767 T>A

Associated Papers

Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies.

Richards MR et al.

Journal of Medical Genetics, 2017

27512013 (PubMed )

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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."