Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.G509D
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CFTR

NM_000492.4:p.G509D

Associated Papers

Population Characteristics of the Spectrum and Frequencies of CFTR Gene Mutations in Patients with Cystic Fibrosis from the Republic of Bashkortostan (Russia).

Ayupova G et al.

Genes, 2024

Advances in the Study of Common and Rare CFTR Complex Alleles Using Intestinal Organoids.

Krasnova M et al.

Journal of Personalized Medicine, 2024

Laboratory Tools to Predict CFTR Modulator Therapy Effectiveness and to Monitor Disease Severity in Cystic Fibrosis.

Bacalhau M et al.

Journal of Personalized Medicine, 2024

Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation.

Kondratyeva E et al.

Frontiers in Genetics, 2024

Clinical and Genetic Characteristics of a Patient with Cystic Fibrosis with a Complex Allele [E217G;G509D] and Functional Evaluation of the CFTR Channel.

Kondratyeva E et al.

Genes, 2023

Mutations in the white gene of Drosophila melanogaster affecting ABC transporters that determine eye colouration.

Mackenzie SM et al.

Biochimica Et Biophysica Acta, 1999

Characterization of the human multidrug resistance protein containing mutations in the ATP-binding cassette signature region.

Bakos E et al.

The Biochemical Journal, 1997

Mutations within the first LSGGQ motif of Ste6p cause defects in a-factor transport and mating in Saccharomyces cerevisiae.

Browne BL et al.

Journal of Bacteriology, 1996

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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."