Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B1
Variant:p.F139L
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CYP11B1

NM_000497.4:p.F139L

Associated Papers

Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency.

Mooij CF et al.

Clinical Endocrinology, 2015

Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.

Parajes S et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

Functional effects of genetic variants in the 11beta-hydroxylase (CYP11B1) gene.

Barr M et al.

Clinical Endocrinology, 2006

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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."