Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.L224P
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SRD5A2

NM_000348.4:p.L224P

Associated Papers

The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective.

Seo J et al.

International Journal of Molecular Sciences, 2023

The Molecular Basis of 5α-Reductase Type 2 Deficiency.

Batista RL et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022

Structure of human steroid 5α-reductase 2 with the anti-androgen drug finasteride.

Xiao Q et al.

Nature Communications, 2020

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

Batista RL et al.

The Application of Clinical Genetics, 2020

Natural mutagenesis study of the human steroid 5 alpha-reductase 2 isozyme.

Wigley WC et al.

Biochemistry, 1994

Molecular genetics of steroid 5 alpha-reductase 2 deficiency.

Thigpen AE et al.

The Journal of Clinical Investigation, 1992

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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."