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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NR5A1

Variant:p.D102delFs

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NR5A1

NM_004959.5:p.D102delFs

hg38:chr9:124500655 TC>T

Associated Papers

Phenotype and genetic characteristics in 20 Chinese patients with 46,XY disorders of sex development.

Zheng GY et al.

Journal of Endocrinological Investigation, 2023

36745277 (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."