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First Report of Whole CFTR Gene Duplication in a Healthy Newborn Carrying R74W and V855I Variants on the Same Allele.

Anna Diana,Angela Maria Polizzi,Annunziata De Luisi, Maria Giuseppina Pantaleo,Giuseppina Leonetti,Simonetta Simonetti,Nenad Bukvic,Matteo Iacoviello,Roberta Bucci,Mattia Gentile,Nicoletta Resta

JOURNAL OF CYSTIC FIBROSIS（2024）

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关键词
CFTR,Human Inborn Errors
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