Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.R928Splc
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ABCB4

NM_000443.4:p.R928Splc

Associated Papers

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

Expanding the spectrum of progressive familial intrahepatic cholestasis: A report of 3 cases.

Jiao J et al.

American Journal of Clinical Pathology, 2025

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (PubMed )
Supplement: media-1.xlsx › TableS2

Leveraging health systems data to characterize a large effect variant conferring risk for liver disease in Puerto Ricans.

Belbin GM et al.

American Journal of Human Genetics, 2021

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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."