Varaico: Literature-Extracted Genetic Variants

Gene:DBH
Variant:p.A318S
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DBH

NM_000787.4:p.A318S

Associated Papers

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

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."