Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.C13R
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NR5A1

NM_004959.5:p.C13R

Associated Papers

[Clinical and molecular characteristics of patients with 46,XY DSD due to NR5A1 gene mutations].

Kalinchenko NY et al.

Problemy Endokrinologii, 2020

Mutation update for the NR5A1 gene involved in DSD and infertility.

Fabbri-Scallet H et al.

Human Mutation, 2020

Characteristic testicular histology is useful for the identification of NR5A1 gene mutations in prepubertal 46,XY patients.

Nishina-Uchida N et al.

Hormone Research in Paediatrics, 2013

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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."