Varaico: Literature-Extracted Genetic Variants

Gene:CYP17A1
Variant:p.E305A
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CYP17A1

NM_000102.4:p.E305A

Associated Papers

An isolated 17,20-lyase deficiency patient achieved a successful live birth after in vitro fertilization: a case report and narrative review.

Hou Z et al.

Journal of Assisted Reproduction and Genetics, 2025

CYP17 mutation E305G causes isolated 17,20-lyase deficiency by selectively altering substrate binding.

Sherbet DP et al.

The Journal of Biological Chemistry, 2003

Molecular modeling of human P450c17 (17alpha-hydroxylase/17,20-lyase): insights into reaction mechanisms and effects of mutations.

Auchus RJ et al.

Molecular Endocrinology (baltimore, Md.), 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."