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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NR5A1

Variant:p.L230_L231insFs

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NR5A1

NM_004959.5:p.L230_L231insFs

hg38:chr9:124500268 A>AGC

Associated Papers

Role of NR5A1 Gene Mutations in Disorders of Sex Development: Molecular and Clinical Features.

Luppino G et al.

Current Issues in Molecular Biology, 2024

38785542 (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."