RS193922501 CFTR
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What This Variant Does
"Heterogeneity of erythrocyte pyruvate kinase deficiency and related metabolic disorders in patients ...
Associated Conditions
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis
Other Variants in CFTR