Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.I486T
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ABCB11

NM_003742.4:p.I486T

Associated Papers

Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.

Felzen A et al.

Jhep Reports : Innovation in Hepatology, 2023

36687469 (PubMed )
Supplement: mmc1.pdf

Interindividual variability of canalicular ATP-binding-cassette (ABC)-transporter expression in human liver.

Meier Y et al.

Hepatology (baltimore, Md.), 2006

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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."