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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NR5A1

Variant:p.T335P

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NR5A1

NM_004959.5:p.T335P

hg38:chr9:124491216 T>G

Associated Papers

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

Kalinchenko NY et al.

Problemy Endokrinologii, 2020

33351340 (PubMed )

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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."