Journal of Molecular Diagnostics · 2013 · 41 citations · 14 references
First 3FibrosisNewborn ScreeningMedicineGenetic EpidemiologyPediatricsPathologyPulmonary FibrosisMolecular DiagnosticsClinical Genetics
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An integrated map of genetic variation from 1,092 human genomes
dbSNP: the NCBI database of genetic variation
Stephen T. Sherry · Nucleic Acids Research · 2001 · 7.7K citations · Full text
Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA
John R. Riordan, Johanna M. Rommens, Bat-Sheva Kerem et al. · Science · 1989 · 7.4K citations
Identification of the Cystic Fibrosis Gene: Genetic Analysis
Bat-Sheva Kerem, Johanna M. Rommens, Janet A. Buchanan et al. · Science · 1989 · 4.1K citations
Cystic Fibrosis Gene, Mendelian Disorder, Phenylalanine Residue +12