• Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508Cys (c.1523T>G); ClinVar=VCV000007126; Zygosity=Heterozygous; Note=Benign (PubMed=19359498).
  

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PubMed=29959025; DOI=10.1016/j.jmoldx.2018.05.009; PMCID=PMC6939753
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