Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.R582W
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ABCB4

NM_000443.4:p.R582W

Associated Papers

Genetic Analysis of ABCB4 Mutations and Variants Related to the Pathogenesis and Pathophysiology of Low Phospholipid-Associated Cholelithiasis.

Wang HH et al.

Genes, 2022

Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities.

Dong C et al.

Jhep Reports : Innovation in Hepatology, 2021

33554096 (PubMed )
Supplement: mmc1.pdf

Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset.

Schatz SB et al.

Hepatology Communications, 2018

A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas.

Nikolaev SI et al.

Cancer Research, 2012

23204322 (PubMed )
Supplement: 00085472can123869-sup-stab_3_xls_457k_rev.xls › Suppl_Table_S3.csv
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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."