Large phenotypic spectrum associated with two new deep intronic variants on the CFTR gene

Conclusion: The two new deep intronic variants are associated with a large phenotypic spectrum, from male infertility to typical CF. These variants should be systematically tested in patients with intermediate or positive sweat tests who do not carry two disease-causing CFTR variants after routine analysis.
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Cystic fibrosis Source Type: research