Varaico: Literature-Extracted Genetic Variants

Gene:DBH
Variant:p.K248_Y249Splc
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DBH

NM_000787.4:p.K248_Y249Splc

Associated Papers

Investigating the dual role of mitochondrial and nuclear genome variants in pediatric cardiomyopathies.

Temena MA et al.

Scientific Reports, 2025

40369053 (PubMed )
Supplement: 41598_2025_1007_MOESM2_ESM.xlsx › Table_1C

Dopamine beta-hydroxylase deficiency.

Senard JM et al.

Orphanet Journal of Rare Diseases, 2006

A revised allele frequency estimate and haplotype analysis of the DBH deficiency mutation IVS1+2T --> C in African- and European-Americans.

Zabetian CP et al.

American Journal of Medical Genetics. Part A, 2003

Variations in the dopamine beta-hydroxylase gene are not associated with the autonomic disorders, pure autonomic failure, or multiple system atrophy.

Cho S et al.

American Journal of Medical Genetics. Part A, 2003

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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."