Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.G723D
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CFTR

NM_000492.4:p.G723D

Associated Papers

The influence of naturally occurring and in silico-informed mutations of MRP1/ABCC1 on the transport of arsenic triglutathione.

Li W et al.

Chemico-biological Interactions, 2026

Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.

Ahting S et al.

International Journal of Molecular Sciences, 2025

40429633 (PubMed )
Supplement: ijms-26-04487-s001.zip › CFTR2_25September2024.xlsx › CFTR2_variants_by_legacy_name

Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.

Bozdogan ST et al.

Genes, 2021

Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia.

Andolfo I et al.

Haematologica, 2016

Characterization and analyses of multidrug resistance-associated protein 1 (MRP1/ABCC1) polymorphisms in Chinese population.

Yin JY et al.

Pharmacogenetics and Genomics, 2009

Functional characterization of non-synonymous single nucleotide polymorphisms in the gene encoding human multidrug resistance protein 1 (MRP1/ABCC1).

Létourneau IJ et al.

Pharmacogenetics and Genomics, 2005

Polymorphism of the ABC transporter genes, MDR1, MRP1 and MRP2/cMOAT, in healthy Japanese subjects.

Ito S et al.

Pharmacogenetics, 2001

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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."