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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYP11B1

Variant:p.P363_L365del3

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CYP11B1

NM_000497.4:p.P363_L365del3

hg38:chr8:142875736 CGCAGCAAGG>C

Associated Papers

Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.

Lu WL et al.

World Journal of Pediatrics : Wjp, 2024

37486441 (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."