Varaico: Literature-Extracted Genetic Variants

Gene:DBH
Variant:p.R549C
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DBH

NM_000787.4:p.R549C

Associated Papers

Integration of genetic fine-mapping and multi-omics data reveals candidate effector genes for hypertension.

van Duijvenboden S et al.

American Journal of Human Genetics, 2023

Rare and common genetic determinants of metabolic individuality and their effects on human health.

Surendran P et al.

Nature Medicine, 2022

Dopamine beta-hydroxylase and its genetic variants in human health and disease.

Gonzalez-Lopez E et al.

Journal of Neurochemistry, 2020

A single nucleotide polymorphism in dopamine beta hydroxylase (rs6271(C>T)) is over-represented in inflammatory bowel disease patients and reduces circulating enzyme.

Gonzalez-Lopez E et al.

Plos One, 2019

Characterization of SNPs in the dopamine-β-hydroxylase gene providing new insights into its structure-function relationship.

Punchaichira TJ et al.

Neurogenetics, 2017

Deep sequencing identifies novel regulatory variants in the distal promoter region of the dopamine-β-hydroxylase gene.

Punchaichira TJ et al.

Pharmacogenetics and Genomics, 2016

The contribution of rare and common variants in 30 genes to risk nicotine dependence.

Yang J et al.

Molecular Psychiatry, 2015

Structural insight of dopamine β-hydroxylase, a drug target for complex traits, and functional significance of exonic single nucleotide polymorphisms.

Kapoor A et al.

Plos One, 2011

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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."