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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYP21A2

Variant:p.W117R

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CYP21A2

NM_000500.9:p.W117R

hg38:chr6:32039150 T>A

Associated Papers

Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center.

Neocleous V et al.

Orphanet Journal of Rare Diseases, 2024

38637882 (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."