Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.W140delFs
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SRD5A2

NM_000348.4:p.W140delFs

Associated Papers

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

Batista RL et al.

The Application of Clinical Genetics, 2020

Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency.

Veiga-Junior NN et al.

International Journal of Endocrinology, 2012

Diagnosis of 5alpha-reductase type 2 deficiency: contribution of anti-Müllerian hormone evaluation.

Stuchi-Perez EG et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2005

New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2.

Hackel C et al.

Journal of Molecular Medicine (berlin, Germany), 2005

New frameshift mutation in the 5alpha-reductase type 2 gene in a Brazilian patient with 5alpha-reductase deficiency.

Ferraz LF et al.

American Journal of Medical Genetics, 1999

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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."