Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.Q636*
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ABCB4

NM_000443.4:p.Q636*

Associated Papers

Novel ABCB4 mutation in a female patient with progressive familial intrahepatic cholestasis type 3: a case report and literature review.

Sharabati I et al.

Annals of Medicine and Surgery (2012), 2025

Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy.

Gonzales E et al.

Jhep Reports : Innovation in Hepatology, 2023

37701337 (PubMed )
Supplement: mmc1.pdf

The Mutational Landscape Of Genetic Cholestatic Diseases In Pakistani Children.

Cheema HA et al.

Jpma. the Journal of the Pakistan Medical Association, 2023

Function and pathophysiological importance of ABCB4 (MDR3 P-glycoprotein).

Oude Elferink RP et al.

Pflugers Archiv : European Journal of Physiology, 2007

The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood.

Jacquemin E et al.

Gastroenterology, 2001

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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."