Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B1
Variant:p.H466_V467Splc
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CYP11B1

NM_000497.4:p.H466_V467Splc

Associated Papers

Identification and functional characterization of compound heterozygous CYP11B1 gene mutations.

Liu H et al.

Endocrine, 2024

Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene.

Baş F et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2018

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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."