Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.R545H
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ABCB4

NM_000443.4:p.R545H

Associated Papers

Expanding the spectrum of progressive familial intrahepatic cholestasis: A report of 3 cases.

Jiao J et al.

American Journal of Clinical Pathology, 2025

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

ABC transporters involved in respiratory and cholestatic diseases: From rare to very rare monogenic diseases.

Lakli M et al.

Biochemical Pharmacology, 2024

Genetic Analysis of ABCB4 Mutations and Variants Related to the Pathogenesis and Pathophysiology of Low Phospholipid-Associated Cholelithiasis.

Wang HH et al.

Genes, 2022

Effect of CFTR correctors on the traffic and the function of intracellularly retained ABCB4 variants.

Ben Saad A et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2021

Latency and interval therapy affect the evolution in metastatic colorectal cancer.

Nikbakht H et al.

Scientific Reports, 2020

31953485 (PubMed )
Supplement: 41598_2020_57476_MOESM5_ESM.xlsx › All_non-silent_mutations

Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients.

Poupon R et al.

Hepatology (baltimore, Md.), 2013

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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."