Varaico: Literature-Extracted Genetic Variants

Gene:COMMD1
Variant:p.D164D
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COMMD1

NM_152516.4:p.D164D

Associated Papers

Association of Variants in the CP, ATOX1 and COMMD1 Genes with Wilson Disease Symptoms in Latvia.

Zarina A et al.

Balkan Journal of Medical Genetics : Bjmg, 2019

A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient.

Gupta A et al.

Behavioral and Brain Functions : Bbf, 2010

Copper toxicosis gene MURR1 is not changed in Wilson disease patients with normal blood ceruloplasmin levels.

Weiss KH et al.

World Journal of Gastroenterology, 2006

Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients.

Stuehler B et al.

Journal of Molecular Medicine (berlin, Germany), 2004

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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."