Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.E330E
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NR5A1

NM_004959.5:p.E330E

Associated Papers

Mapping the Non-Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility.

Li K et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2026

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

Kalinchenko NY et al.

Problemy Endokrinologii, 2020

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

Bourchany A et al.

European Journal of Medical Genetics, 2017

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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."