Varaico: Literature-Extracted Genetic Variants

Gene:ABCC2
Variant:p.K813_T814Splc
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ABCC2

NM_000392.5:p.K813_T814Splc

Associated Papers

A recurrent ABCC2 c.2439 + 5G > A variant disturbs mRNA splicing and causes Dubin-Johnson syndrome.

Sun R et al.

Bmc Medical Genomics, 2025

Neonatal Dubin-Johnson syndrome: biochemical parameters, characteristics, and genetic variants study.

Fu H et al.

Pediatric Research, 2022

Whole-exome sequencing expands the roles of novel mutations of organic anion transporting polypeptide, ATP-binding cassette transporter, and receptor genes in intrahepatic cholestasis of pregnancy.

Liu X et al.

Frontiers in Genetics, 2022

36046230 (PubMed )
Supplement: Table3.XLSX › Sheet1
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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."