Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B1
Variant:p.N152K
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CYP11B1

NM_000497.4:p.N152K

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

The molecular basis and genotype-phenotype correlations of congenital adrenal hyperplasia (CAH) in Anatolian population.

Dundar A et al.

Molecular Biology Reports, 2019

Mechanisms of acquired resistance to rapalogs in metastatic renal cell carcinoma.

Hamieh L et al.

Plos Genetics, 2018

30256787 (PubMed )
Supplement: pgen.1007679.s001.xlsx › Table_S1

Unequal crossing-over between aldosterone synthase and 11beta-hydroxylase genes causes congenital adrenal hyperplasia.

Hampf M et al.

The Journal of Clinical Endocrinology and Metabolism, 2001

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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."