Varaico: Literature-Extracted Genetic Variants

Gene:ABCC2
Variant:p.L441M
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ABCC2

NM_000392.5:p.L441M

Associated Papers

A recurrent ABCC2 p.G693R mutation resulting in loss of function of MRP2 and hyperbilirubinemia in Dubin-Johnson syndrome in China.

Wu L et al.

Orphanet Journal of Rare Diseases, 2020

32183854 (PubMed )
Supplement: 13023_2020_1346_MOESM1_ESM.docx

Mutation and functional analysis of ABCC2/multidrug resistance protein 2 in a Japanese patient with Dubin-Johnson syndrome.

Uchiumi T et al.

Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2013

Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome.

Pacifico L et al.

Clinical Genetics, 2010

Neonatal Dubin-Johnson syndrome: long-term follow-up and MRP2 mutations study.

Lee JH et al.

Pediatric Research, 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."