Predicted pathogenic mutations in STAP1 are not associated with clinically defined familial hypercholesterolemia.
Sign Up to like & getrecommendations! Published in 2019 at "Atherosclerosis"
DOI: 10.1016/j.atherosclerosis.2019.11.025
Abstract: BACKGROUND AND AIMS Autosomal dominant familial hypercholesterolemia (FH) is caused by mutations in LDLR,APOB and PCSK9. Two new putative loci causing FH have been identified recently, the p.(Leu167del) mutation in APOE and new mutations in… read more here.
Keywords: hypercholesterolemia; stap1; family; predicted pathogenic ... See more keywords
A systematic review of predicted pathogenic PALB2 variants: an analysis of mutational overlap between epithelial cancers
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Human Genetics"
DOI: 10.1038/s10038-019-0680-7
Abstract: Partner and localiser of BRCA2 forms part of a macromolecular complex with BRCA1 and BRCA2, which is critical for the repair of double-strand DNA breaks by homologous DNA recombination. Germline loss-of-function variants in the PALB2… read more here.
Keywords: systematic review; palb2 variants; predicted pathogenic; cancer ... See more keywords