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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYP21A2

Variant:p.L110*

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CYP21A2

NM_000500.9:p.L110*

hg38:chr6:32039130 T>A

Associated Papers

Impact of Newborn Screening on Clinical Presentation of Congenital Adrenal Hyperplasia.

Navardauskaitė R et al.

Medicina (kaunas, Lithuania), 2021

34684072 (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."