Varaico: Literature-Extracted Genetic Variants

Gene:POLR3G
Variant:p.A10V
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POLR3G

NM_006467.3:p.A10V

Associated Papers

New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes.

Moisan AM et al.

The Journal of Clinical Endocrinology and Metabolism, 1999

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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."