Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.E570K
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ABCB4

NM_000443.4:p.E570K

Associated Papers

The Mutational Landscape Of Genetic Cholestatic Diseases In Pakistani Children.

Cheema HA et al.

Jpma. the Journal of the Pakistan Medical Association, 2023

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."