Varaico: Literature-Extracted Genetic Variants

Gene:DBH
Variant:p.D114E
Back to variants list

DBH

NM_000787.4:p.D114E

Associated Papers

Clinical presentation and long-term follow-up of dopamine beta hydroxylase deficiency.

Wassenberg T et al.

Journal of Inherited Metabolic Disease, 2021

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

Gonzalez-Lopez E et al.

Journal of Neurochemistry, 2020

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

Punchaichira TJ et al.

Neurogenetics, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."