Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: PGAM2: G97D; rs77938727
15 years of PhosphoSitePlus®: integrating post-translationally modified sites, disease variants and isoforms.
Nucleic Acids Research
Hornbeck, Peter V PV; Kornhauser, Jon M JM; Latham, Vaughan V; Murray, Beth B; Nandhikonda, Vidhisha V; Nord, Alex A; Skrzypek, Elzbieta E; Wheeler, Travis T; Zhang, Bin B; Gnad, Florian F