Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B1
Variant:p.K173R
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CYP11B1

NM_000497.4:p.K173R

Associated Papers

Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Alkhamis FA et al.

Functional & Integrative Genomics, 2023

36973604 (PubMed )
Supplement: 10142_2023_1039_MOESM1_ESM.xlsx › all_variants

Association of aldosterone synthase CYP11B2 (-344C/T) gene polymorphism with essential hypertension and left ventricular hypertrophy in the Egyptian population.

Abdel Ghafar MT

Clinical and Experimental Hypertension (new York, N.y. : 1993), 2019

Effects of genetic variation in the aldosterone synthase (CYP11B2) gene on enzyme function.

Holloway CD et al.

Clinical Endocrinology, 2009

Association of the -344T/C aldosterone synthase gene variant with essential hypertension.

Hlubocká Z et al.

Physiological Research, 2009

Haplotypic analyses of the aldosterone synthase gene CYP11B2 associated with stage-2 hypertension in northern Han Chinese.

Gu D et al.

Clinical Genetics, 2004

Mutation analysis of CYP11B1 and CYP11B2 in patients with increased 18-hydroxycortisol production.

Nicod J et al.

Molecular and Cellular Endocrinology, 2004

Contrasting associations between aldosterone synthase gene polymorphisms and essential hypertension in blacks and in whites.

Zhu H et al.

Journal of Hypertension, 2003

[The relationship of aldosterone synthase gene polymorphism with hypertension and left ventricular hypertrophy].

Chen A et al.

Zhonghua Nei Ke Za Zhi, 2002

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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."