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Molecular Genetics & Genomic Medicine
(Sep 2022)
G378X‐I148T CFTR variant: A new complex allele in a cystic fibrosis newborn with pancreatic insufficiency
Vito Terlizzi,
Claudia Centrone,
Matteo Botti,
Giovanni Taccetti
Affiliations
Vito Terlizzi
Department of Paediatric Medicine Cystic Fibrosis Regional Reference Center Meyer Children's Hospital Florence Italy
Claudia Centrone
Diagnostic Genetics Unit Careggi University Hospital Florence Italy
Matteo Botti
Tuscany Support Cystic Fibrosis Service, Department of Pediatrics Leghorn Hospital Leghorn Italy
Giovanni Taccetti
Department of Paediatric Medicine Cystic Fibrosis Regional Reference Center Meyer Children's Hospital Florence Italy
DOI
https://doi.org/10.1002/mgg3.2033
Journal volume & issue
Vol. 10, no. 9
pp. n/a – n/a
Abstract
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