Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Q637fs
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CFTR

NM_000492.4:p.Q637fs

Associated Papers

Beyond the 10%: Unraveling the genetic diversity in Turkish cystic fibrosis patients not eligible for CFTR modulators.

Yıldız CA et al.

Pediatric Pulmonology, 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

39529847 (PubMed )
Supplement: Table1.XLSX › Supplement_1

Reporting Two Novel Mutations in Two Iranian Families with Cystic Fibrosis, Molecular and Bioinformatic Analysis

Hosseini Nami A et al.

Iranian Biomedical Journal, 2022

The first report on CFTR mutations of meconium ileus in cystic fibrosis population in Saudi Arabia: A single center review.

Banjar H et al.

International Journal of Pediatrics & Adolescent Medicine, 2022

Forty-seven pathogenic variants causing autosomal recessive disorders are shared by Israeli and Saudi Arabian Arabs.

Zlotogora J

Clinical Genetics, 2021

Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia.

Banjar H et al.

International Journal of Pediatrics & Adolescent Medicine, 2021

A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.

Kiseleva AV et al.

Journal of Personalized Medicine, 2020

32971794 (PubMed )
Supplement: jpm-10-00140-s001.pdf

Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.

Behar DM et al.

Molecular Genetics & Genomic Medicine, 2017

Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.

Banjar HH et al.

Annals of Saudi Medicine, 0

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