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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NR5A1

Variant:p.K106delins

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NR5A1

NM_004959.5:p.K106delins

hg38:chr9:124500642 T>TGCCTTCTTC

Associated Papers

Pubertal development in 46,XY patients with NR5A1 mutations.

Mönig I et al.

Endocrine, 2022

34613524 (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."