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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYP21A2

Variant:p.L309_H310insFs

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CYP21A2

NM_000500.9:p.L309_H310insFs

hg38:chr6:32040191 C>CT

Associated Papers

Detection of a novel severe mutation affecting the CYP21A2 gene in a Chilean male with salt wasting congenital adrenal hyperplasia.

Arteaga E et al.

Endocrine, 2020

31571129 (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."