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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYP21A2

Variant:p.L290insFs

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CYP21A2

NM_000500.9:p.L290insFs

hg38:chr6:32040135 T>TC

Associated Papers

Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.

Romdhane L et al.

Orphanet Journal of Rare Diseases, 2012

22908982 (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."