Varaico: Literature-Extracted Genetic Variants

Gene:ATP8B1
Variant:p.R930Q
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ATP8B1

NM_001374385.1:p.R930Q

Associated Papers

Characterization of a novel ABCC2 mutation in infantile Dubin Johnson syndrome.

Khabou B et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021

Should patients with symptomatic cholelithiasis before 30 years of age be tested for ABCB4 gene mutations?

Gouveia C et al.

Scandinavian Journal of Gastroenterology, 2020

Mutational analysis of ATP8B1 in patients with chronic pancreatitis.

van der Woerd WL et al.

Plos One, 2013

Analysis of gene mutations in children with cholestasis of undefined etiology.

Matte U et al.

Journal of Pediatric Gastroenterology and Nutrition, 2010

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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."