Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.S83delFs
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GH1

NM_000515.5:p.S83delFs

Associated Papers

New compound heterozygous mutation in the CYP17 gene in a 46,XY girl with 17 alpha-hydroxylase/17,20-lyase deficiency.

Katsumata N et al.

Hormone Research, 2001

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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."