Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.R278Splc
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ABCB4

NM_000443.4:p.R278Splc

Associated Papers

An update on laboratory diagnosis of liver inherited diseases.

Zarrilli F et al.

Biomed Research International, 2013

Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations.

Colombo C et al.

Journal of Pediatric Gastroenterology and Nutrition, 2011

An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study.

Tomaiuolo R et al.

Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2009

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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."