Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B1
Variant:p.D82N
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CYP11B1

NM_000497.4:p.D82N

Associated Papers

Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency.

Al Alawi AM et al.

Endocrine, 2019

Codon-level co-occurrences of germline variants and somatic mutations in cancer are rare but often lead to incorrect variant annotation and underestimated impact prediction.

Koire A et al.

Plos One, 2017

28350864 (PubMed )
Supplement: pone.0174766.s004.xlsx › Sheet1
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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."