Publication | Open Access

Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign

Molecular Diagnostic TechniquesMolecular PhysiologyDisease MechanismGenetic DisorderMedicineGeneticsPathogenesisPathologyGene CharacterizationMolecular GeneticsDisease Gene IdentificationMolecular DiagnosticsCommon Variant