Associated Papers
Gathering real-world compassionate data to expand eligibility for elexacaftor/tezacaftor/ivacaftor in people with cystic fibrosis with N1303K or other rare CFTR variants: a viewpoint.
Burgel PR et al.
The European Respiratory Journal, 2024
Crigler-Najjar type II syndrome may result from several types and combinations of mutations in the UGT1A1 gene.
Petit F et al.
Clinical Genetics, 2006
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