WS03.01 Differences in disease severity among different residual function mutations: data from the ECFS Patient Registry

Journal of Cystic Fibrosis(2023)

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摘要
Background: The clinical presentation of Cystic Fibrosis (CF) is variable. Variants that exhibit residual function (RF) in CF transmembrane conductance regulator are considered to cause a milder disease, however, the spectrum of CF phenotype within the different RF variants has not been extensively investigated.
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关键词
different residual function mutations,function mutations,disease severity
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