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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:B3GLCT

Variant:p.Q104_G106Fs

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B3GLCT

NM_194318.4:p.Q104_G106Fs

hg38:chr13:31247064 AGAAG>A

Associated Papers

Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.

Kouri C et al.

Ebiomedicine, 2024

38168586 (PubMed )

Supplement: mmc1.pdf

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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."