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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NR5A1

Variant:p.R92Fs

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NR5A1

NM_004959.5:p.R92Fs

hg38:chr9:124500685 CG>A

Associated Papers

Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.

Phelan JK et al.

Human Mutation, 2001

11748841 (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."