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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NR5A1

Variant:p.P124_G127delFs

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NR5A1

NM_004959.5:p.P124_G127delFs

hg38:chr9:124500579 CCCCATCGGGGG>C

Associated Papers

Genetic variants and molecular profiling of 46,XY gonadal dysgenesis using whole-exome sequencing.

Zhang N et al.

Frontiers in Endocrinology, 2025

40290305 (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."