Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R1239_V1240Splc
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CFTR

NM_000492.4:p.R1239_V1240Splc

Associated Papers

A comprehensive review of cystic fibrosis in Africa and Asia.

Abubakar Bobbo K et al.

Saudi Journal of Biological Sciences, 2023

Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Ni Q et al.

Orphanet Journal of Rare Diseases, 2022

35313924 (PubMed )
Supplement: 13023_2022_2279_MOESM1_ESM.xls › TableS1_CFTR_sites

CFTR gene mutation spectrum among 735 Iranian patients with cystic fibrosis: A comprehensive systematic review.

Alibakhshi R et al.

Pediatric Pulmonology, 2021

The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.

Erdoğan M et al.

Balkan Medical Journal, 2021

CFTR Gene Mutations in the Egyptian Population: Current and Future Insights for Genetic Screening Strategy.

El-Seedy AS et al.

Frontiers in Genetics, 2017

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene mutations in North Egyptian population: implications for the genetic diagnosis in Egypt.

El-Seedy A et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2016

Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.

Trujillano D et al.

Molecular Genetics & Genomic Medicine, 2015

Frequency of common CFTR gene mutations in Venezuelan patients with cystic fibrosis.

Sánchez K et al.

Investigacion Clinica, 2014

CFTR mutations and cystic fibrosis.

Unknown Author

Prescrire International, 2013

Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California.

Prach L et al.

The Journal of Molecular Diagnostics : Jmd, 2013

[Influence of a genetic component on the propensity of dust-exposed workers to visceropathies (on the pattern of detecting polymorphisms in the transmembrane conductance regulatory protein CFTR gene)].

Peskov SA et al.

Meditsina Truda I Promyshlennaia Ekologiia, 2013

[Frequency of delta F508 mutation in Venezuelan patients with cystic fibrosis].

Morales-Machin A et al.

Investigacion Clinica, 2004

Clinical complications in children with false-negative results in cystic fibrosis newborn screening.

Zybert K et al.

Jornal De Pediatria, 0

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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."