Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R75G
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CFTR

NM_000492.4:p.R75G

Associated Papers

Clinical and genetic profiles of paediatric patients with cystic fibrosis from Western India.

Chandane P et al.

Lung India : Official Organ of Indian Chest Society, 2025

Exploring the diversity of CFTR gene mutations in cystic fibrosis individuals of South Asia.

Rafique H et al.

The Journal of Asthma : Official Journal of the Association for the Care of Asthma, 2024

A comprehensive review of cystic fibrosis in Africa and Asia.

Abubakar Bobbo K et al.

Saudi Journal of Biological Sciences, 2023

Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.

Zacarias S et al.

International Journal of Molecular Sciences, 2023

Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next-generation treatments.

Singh M et al.

Respirology (carlton, Vic.), 2015

Spectrum and distribution of CFTR gene mutations in asthma and chronic pancreatitis cases of North Indian population.

Muthuswamy S et al.

Gene, 2014

Mutation analysis of the CFTR gene in 225 children: identification of five novel severe and seven reported severe mutations.

Sachdeva K et al.

Genetic Testing and Molecular Biomarkers, 2012

Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?

Dorfman R et al.

Clinical Genetics, 2010

20059485 (PubMed )
Supplement: supplement_1.pdf
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