Associated Papers
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.
Zacarias S et al.
International Journal of Molecular Sciences, 2023
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
Interhelical hydrogen bonds in the CFTR membrane domain.
Therien AG et al.
Nature Structural Biology, 2001
High frequency of the N34S mutation in the SPINK1 gene in chronic pancreatitis detected by a new PCR-RFLP assay.
Plendl H et al.
American Journal of Medical Genetics, 2001
Genetic testing in acute and chronic pancreatitis.
Rolston RK et al.
Current Gastroenterology Reports, 2001
Molecular basis of hereditary pancreatitis.
Chen JM et al.
European Journal of Human Genetics : Ejhg, 2000
Evidence that hereditary pancreatitis is genetically heterogeneous disorder.
Ravnik-Glavač M et al.
Pflugers Archiv : European Journal of Physiology, 2000
Evidence that hereditary pancreatitis is genetically heterogeneous disorder.
Ravnik-Glavac M et al.
Pflugers Archiv : European Journal of Physiology, 2000
Heterogeneity in hereditary pancreatitis.
Dasouki MJ et al.
American Journal of Medical Genetics, 1998
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene.
Macek M et al.
Human Mutation, 1997
Cystic fibrosis gene mutations detected in hereditary pancreatitis.
Ravnik-Glavac M et al.
Pflugers Archiv : European Journal of Physiology, 1996
Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.
Ravnik-Glavac M et al.
Human Molecular Genetics, 1994