Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.R1001R
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ABCB11

NM_003742.4:p.R1001R

Associated Papers

Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.

Sakaguchi N et al.

Npj Genomic Medicine, 2022

35304488 (PubMed )
Supplement: 41525_2022_294_MOESM2_ESM.xlsx › Table_1

Liver transcript analysis reveals aberrant splicing due to silent and intronic variations in the ABCB11 gene.

Davit-Spraul A et al.

Molecular Genetics and Metabolism, 2014

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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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."