Varaico: Literature-Extracted Genetic Variants

Gene:SF1
Variant:p.P131L
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SF1

NM_004630.4:p.P131L

Associated Papers

A missense mutation in NR5A1 causing female to male sex reversal: A case report.

Askari M et al.

Andrologia, 2020

Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development.

Tantawy S et al.

European Journal of Endocrinology, 2014

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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."