Associated Papers
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
37873426 (PubMed )
Supplement: media-3.xlsx › Sheet1
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
38271453 (PubMed )
Supplement: pone.0297560.s009.xlsx › Supp_Table_2
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.
Zacarias S et al.
International Journal of Molecular Sciences, 2023
36834620 (PubMed )
Supplement: ijms-24-03211-s001.zip › ijms-2071953-supplementary.pdf
Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.
Petrova NV et al.
Genes, 2020
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
Claustres M et al.
Human Mutation, 2017
Association of cystic fibrosis transmembrane-conductance regulator gene mutation with negative outcome of intracytoplasmic sperm injection pregnancy in cases of congenital bilateral absence of vas deferens.
Lu S et al.
Fertility and Sterility, 2014
Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.
Schrijver I et al.
The Journal of Molecular Diagnostics : Jmd, 2005
DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.
Jongbloed R et al.
Human Mutation, 2002
A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.
Chen JM et al.
Molecular Biology and Evolution, 2001
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Claustres M et al.
Human Mutation, 2000
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