Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.G319G
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ABCB4

NM_000443.4:p.G319G

Associated Papers

In silico investigation of the impact of synonymous variants in ABCB4 gene on mRNA stability/structure, splicing accuracy and codon usage: Potential contribution to PFIC3 disease.

Khabou B et al.

Computational Biology and Chemistry, 2016

Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing.

Byrne JA et al.

Hepatology (baltimore, Md.), 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."