Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.A535A
Back to variants list

ABCB11

NM_003742.4:p.A535A

Associated Papers

Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.

Moles-Fernández A et al.

Cancers, 2021

34283047 (PubMed )
Supplement: cancers-13-03341-s001.zip › 2_Supplementary_table_S2A_2B.xlsx › Suppl_Table_2A

Association of variants of ABCB11 with transient neonatal cholestasis.

Liu LY et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2013

ABCB11 gene mutations in Chinese children with progressive intrahepatic cholestasis and low gamma glutamyltransferase.

Liu LY et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2010

A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2.

Lam CW et al.

Journal of Hepatology, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."