Varaico: Literature-Extracted Genetic Variants

Gene:ABCC4
Variant:p.V854F
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ABCC4

NM_005845.5:p.V854F

Associated Papers

Genetic Analysis of Patients with Chronic Thromboembolic Pulmonary Hypertension (CTEPH): A Single-Center Observational Study.

Bereczky Z et al.

Genes, 2025

41300788 (PubMed )
Supplement: genes-16-01336-s001.zip › genes-3947445-supplementary.pdf

Whole-exome profiles of inflammatory breast cancer and pathological response to neoadjuvant chemotherapy.

Bertucci F et al.

Journal of Translational Medicine, 2024

39465437 (PubMed )
Supplement: 12967_2024_5790_MOESM2_ESM.xlsx › Table_S2

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism

A pharmacogenetic candidate gene study of tenofovir-associated Fanconi syndrome.

Dahlin A et al.

Pharmacogenetics and Genomics, 2015

Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.

Wang LL et al.

Basic & Clinical Pharmacology & Toxicology, 2011

6-mercaptopurine and 9-(2-phosphonyl-methoxyethyl) adenine (PMEA) transport altered by two missense mutations in the drug transporter gene ABCC4.

Janke D et al.

Human Mutation, 2008

Variability in human hepatic MRP4 expression: influence of cholestasis and genotype.

Gradhand U et al.

The Pharmacogenomics Journal, 2008

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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."