Varaico: Literature-Extracted Genetic Variants

Gene:POLR3H
Variant:p.V99Splc
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POLR3H

NM_001018050.4:p.V99Splc

Associated Papers

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome.

Braverman N et al.

Nature Genetics, 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."