Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.Y197*
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NR5A1

NM_004959.5:p.Y197*

Associated Papers

[Erratum: clinical and molecular characteristics of patients with 46,xy dsd due to nr5a1 gene mutations (Probl Endokrinol (Mosk). 2020 Sep 16;66(3):62-69. Russian. doi: 10.14341/probl12445)].

Kalinchenko NY et al.

Problemy Endokrinologii, 2021

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

Kalinchenko NY et al.

Problemy Endokrinologii, 2020

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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."