Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.Q56H
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SRD5A2

NM_000348.4:p.Q56H

Associated Papers

Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France.

Bonnet E et al.

Endocrine Connections, 2023

Molecular diagnostics of disorders of sexual development: an Indian survey and systems biology perspective.

Nagaraja MR et al.

Systems Biology in Reproductive Medicine, 2019

Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency.

Eren E et al.

Journal of Clinical Research in Pediatric Endocrinology, 2016

Novel mutation of SRD5A2 gene in a patient with 5α-reductase 2 deficiency from India.

Shabir I et al.

Bmj Case Reports, 2012

Genetic analysis of the SRD5A2 gene in Indian patients with 5alpha-reductase deficiency.

Sahu R et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2009

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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."