Varaico: Literature-Extracted Genetic Variants

Gene:CYP17A1
Variant:p.T294N
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CYP17A1

NM_000102.4:p.T294N

Associated Papers

Assisted reproductive treatment for primary infertility in patients with partial or isolated 17α-hydroxylase/17,20-lyase deficiency: a case series and literature review.

Chai Q et al.

Journal of Assisted Reproduction and Genetics, 2025

Cytochromes p450: roles in diseases.

Pikuleva IA et al.

The Journal of Biological Chemistry, 2013

Three-dimensional structure of steroid 21-hydroxylase (cytochrome P450 21A2) with two substrates reveals locations of disease-associated variants.

Zhao B et al.

The Journal of Biological Chemistry, 2012

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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."