Literature summary for 5.6.1.6 extracted from

Chang, Y.T.; Chang, M.C.; Su, T.C.; Liang, P.C.; Su, Y.N.; Kuo, C.H.; Wei, S.C.; Wong, J.M.
Association of cystic fibrosis transmembrane conductance regulator (CFTR) mutation/variant/haplotype and tumor necrosis factor (TNF) promoter polymorphism in hyperlipidemic pancreatitis (2008), Clin. Chem., 54, 131-138.

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Application

Application	Comment	Organism
medicine	analysis of patients with hypertriglyceridemia for mutations in the CFTR gene. 13 out of 126 patients carried a mutation in CFTR, all carrying I556V. Multivariate analysis indicates that triglycerides, CFTR mutation 470V, and TNF promoter 863A are independent risk markers for hypertriglyceridemia	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	patients with hypertriglyceridemia	-

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Release 2023.1 (January 2023)