Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.M87V
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HSD17B6

NM_003725.4:p.M87V

Associated Papers

Congenital adrenal hyperplasia, disorders of sex development, and infertility in patients with POR gene pathogenic variants: a systematic review of the literature.

Gusmano C et al.

Journal of Endocrinological Investigation, 2023

In Silico Analysis of PORD Mutations on the 3D Structure of P450 Oxidoreductase.

Nurhafizuddin M et al.

Molecules (basel, Switzerland), 2022

Delayed diagnosis of disorder of sex development (DSD) due to P450 oxidoreductase (POR) deficiency.

Koika V et al.

Hormones (athens, Greece), 2016

Replacement of active-site residues of quinoline 2-oxidoreductase involved in substrate recognition and specificity.

Purvanov V et al.

Current Microbiology, 2005

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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."