Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B2
Variant:p.L382L
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CYP11B2

NM_000498.3:p.L382L

Associated Papers

Unequal crossing over between CYP11B2 and CYP11B1 causes 11 β -hydroxylase deficiency in a consanguineous family.

Xiong Y et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2023

A glioneuronal tumor with CLIP2-MET fusion.

Chowdhury T et al.

Npj Genomic Medicine, 2020

32550005 (PubMed )
Supplement: 41525_2020_131_MOESM2_ESM.xlsx › Mutation__exonic_splicing_
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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."