Varaico: Literature-Extracted Genetic Variants

Gene:ABCC2
Variant:p.G808V
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ABCC2

NM_000392.5:p.G808V

Associated Papers

Genotype-Phenotype Association in ABCC2 Exon 18 Missense Mutation Leading to Dubin-Johnson Syndrome: A Case Report.

Kim JH et al.

International Journal of Molecular Sciences, 2022

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

Mutation analysis of the ABCC2 gene in Chinese patients with Dubin-Johnson syndrome.

Wu L et al.

Experimental and Therapeutic Medicine, 2018

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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."