Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.A62E
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SRD5A2

NM_000348.4:p.A62E

Associated Papers

Accuracy of Urinary Etiocholanolone/Androsterone Ratio as Alternative to Serum Testosterone/Dihydrotestosterone Ratio for Diagnosis of 5 Alpha-reductase Type 2 Deficiency Patients and Carriers in Indonesia.

Marzuki NS et al.

International Journal of Endocrinology and Metabolism, 2021

Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide.

Batista RL et al.

The Application of Clinical Genetics, 2020

Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China.

Cheng J et al.

Clinical Endocrinology, 2015

Diagnosis of 5α-reductase 2 deficiency: is measurement of dihydrotestosterone essential?

Chan AO et al.

Clinical Chemistry, 2013

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

Shabir I et al.

Bmj Case Reports, 2012

Primary amenorrhea in four adolescents revealed 5α-reductase deficiency confirmed by molecular analysis.

Maimoun L et al.

Fertility and Sterility, 2011

Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.

Maimoun L et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

A new mutation of 5-alpha-reductase type 2 (A62E) in a large Egyptian kindred.

Hafez M et al.

Hormone Research, 2003

Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.

Fernández-Cancio M et al.

Journal of Andrology, 0

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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."