Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study.
Respiration; international review of thoracic diseases(2022)
摘要
The Gen-Phen-Re-GreekS in iIPF identified multiple and overlapping genetic components including the rarest, underlying disease's genetic "richesse," complexity and heterogeneity. Time-to-death differences may relate to diverse IPF pathogenetic mechanisms implicating "personalized" medical care driven by genotypes in the near future.
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关键词
Inheritable pulmonary fibrosis,MUC5B rs35705950 T risk allele,Pathogenic variations,Prognosis,Surfactant protein-related genes,Telomere-related genes
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