Varaico: Literature-Extracted Genetic Variants

Gene:DBH
Variant:p.E331K
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DBH

NM_000787.4:p.E331K

Associated Papers

Mosaic deletion 11p13 in a child with dopamine beta-hydroxylase deficiency--case report and review of the literature.

Erez A et al.

American Journal of Medical Genetics. Part A, 2010

Dopamine beta-hydroxylase deficiency.

Senard JM et al.

Orphanet Journal of Rare Diseases, 2006

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."