Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity

Antzeko izenburuak

• Phenotype-Optimized Sequence Ensembles Substantially Improve Prediction of Disease-Causing Mutation in Cystic Fibrosis
  nork: Masica, David L., et al.
  Argitaratua: (2012)
• Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis
  nork: Sharma, Neeraj, et al.
  Argitaratua: (2018)
• Towards Increasing the Clinical Relevance of In Silico Methods to Predict Pathogenic Missense Variants
  nork: Masica, David L., et al.
  Argitaratua: (2016)
• Functional studies of rare missense mutations in CFTR facilitate interpretation of genotype-phenotype relationships
  nork: Krasnov, Kristina V., et al.
  Argitaratua: (2008)
• Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
  nork: Sosnay, Patrick R, et al.
  Argitaratua: (2013)