Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.R144Q
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ABCB4

NM_000443.4:p.R144Q

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

Identification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3.

Wang S et al.

Scientific Reports, 2024

39521930 (PubMed )
Supplement: 41598_2024_79123_MOESM1_ESM.pdf

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

Clinical and Genetic Spectra of Inherited Liver Disease in Children in China.

Fang Y et al.

Frontiers in Pediatrics, 2021

33763395 (PubMed )
Supplement: Data_Sheet_1.PDF

Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis.

Sharma A et al.

Bmc Gastroenterology, 2018

A Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis.

Sharma A et al.

Indian Pediatrics, 2016

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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."