Varaico: Literature-Extracted Genetic Variants

Gene:PRL
Variant:p.P30L
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PRL

NM_000948.6:p.P30L

Associated Papers

Approaching fertility in congenital adrenal hyperplasia: exploring P30L mutation-induced 21-hydroxylase deficiency with a presentation between non-classical and simple virilizing phenotypes. A case report.

Herdean AM et al.

Medicine and Pharmacy Reports, 2024

Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems.

Stangler Herodež Š et al.

Balkan Journal of Medical Genetics : Bjmg, 2015

Unexplained infertility: increased risk for 21-hydroxylase-deficiency in parents and offspring?

Baumgartner-Parzer S et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2014

Variations in the promoter of CYP21A2 gene identified in a Chinese patient with simple virilizing form of 21-hydroxylase deficiency.

Zhang HJ et al.

Clinical Endocrinology, 2009

Different structural requirements at specific proline residue positions in the conserved proline-rich region of cytochrome P450 2C2.

Chen CD et al.

The Journal of Biological Chemistry, 1996

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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."