Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.R549C
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ABCB4

NM_000443.4:p.R549C

Associated Papers

Low-Allele-Frequency Somatic Variants in a Cohort of Sporadic Saccular "Berry" Cerebral Aneurysms.

Karasozen Y et al.

Journal of the American Heart Association, 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

Hepatology Genome Rounds: An interdisciplinary approach to integrate genomic data into clinical practice.

Chung DH et al.

Journal of Hepatology, 2023

Clinical and genetic characterization of pediatric patients with progressive familial intrahepatic cholestasis type 3 (PFIC3): identification of 14 novel ABCB4 variants and review of the literatures.

Chen R et al.

Orphanet Journal of Rare Diseases, 2022

Tumor genetic heterogeneity analysis of chronic sun-damaged melanoma.

Sanna A et al.

Pigment Cell & Melanoma Research, 2020

31811783 (PubMed )
Supplement: PCMR-33-480-s003.xls › Supplementary_Table_3

Clinical utility of genomic analysis in adults with idiopathic liver disease.

Hakim A et al.

Journal of Hepatology, 2019

Unexplained cholestasis in adults and adolescents: diagnostic benefit of genetic examination.

Aamann L et al.

Scandinavian Journal of Gastroenterology, 2018

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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."