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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NR5A1

Variant:p.K34_G35Splc

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NR5A1

NM_004959.5:p.K34_G35Splc

hg38:chr9:124503293 C>G

Associated Papers

A Novel Variant in NR5A1 Presenting as 46,XY Difference of Sex Development.

Yu Y et al.

Jcem Case Reports, 2023

37719339 (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."