Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B1
Variant:p.I319delFs
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HSD3B1

NM_000862.3:p.I319delFs

Associated Papers

A New Homozygous Frameshift Mutation in the HSD3B2 Gene in an Apparently Nonconsanguineous Italian Family.

Bizzarri C et al.

Hormone Research in Paediatrics, 2016

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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."