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
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
34283047 (PubMed )
Supplement: cancers-13-03341-s001.zip › 2_Supplementary_table_S2A_2B.xlsx › Suppl_Table_2A
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
29255262 (PubMed )
Supplement: NIHMS74866-supplement-Supplementary_table_1.xlsx › EXAC_CFTR
Functional properties and evolutionary splicing constraints on a composite exonic regulatory element of splicing in CFTR exon 12.
Haque A et al.
Nucleic Acids Research, 2010
Nucleotide binding domains of human CFTR: a structural classification of critical residues and disease-causing mutations.
Eudes R et al.
Cellular and Molecular Life Sciences : Cmls, 2005
Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertility.
Morea A et al.
Molecular Human Reproduction, 2005
Quantitative methods for the analysis of CFTR transcripts/splicing variants.
Amaral MD et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2004
Genomic variants in exons and introns: identifying the splicing spoilers.
Pagani F et al.
Nature Reviews. Genetics, 2004
New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.
Pagani F et al.
Human Molecular Genetics, 2003
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
Detection of 100% of the CFTR mutations in 63 CF families from Tyrol.
Stuhrmann M et al.
Clinical Genetics, 1997
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