Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.P142R
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NR5A1

NM_004959.5:p.P142R

Associated Papers

NR5A1 c.991-1G > C splice-site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance.

Laan M et al.

Clinical Endocrinology, 2021

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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."