Global ETD Search

Functional validation of human rare missense variants associated with body fat distribution and cardiometabolic risk

Dong, LiangUniversity of Cambridge2021

… missense (coding) variants with a range of phenotypes. In collaboration with colleagues in the MRC Epidemiology Unit in Cambridge, we recently identified rare missense variants in ALK7 (p.I195T and p.N150H), CALCRL (p.L87P), PLIN1 (p.L90P) and PDE3B (p.R783X) which were associated with a …

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