G378X‐I148T CFTR variant: A new complex allele in a cystic fibrosis newborn with pancreatic insufficiency
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DOI: 10.1002/mgg3.2033
Abstract: Dear Editor, Cystic Fibrosis (CF) is a multisystem disease caused by mutations causing deficient or dysfunctional CF transmembrane conductance regulator (CFTR) protein. Today, the growing proportion of newborn screening (NBS) programmes and the use of… read more here.
Keywords: cftr; i148t; variant; complex allele ... See more keywords