Germline mutations in mitochondrial complex I reveal genetic and targetable vulnerability in IDH1-mutant acute myeloid leukaemia.
Nature Communications
Bassal, Mahmoud A MA; Samaraweera, Saumya E SE; Lim, Kelly K; Benard, Brooks A BA; Bailey, Sheree S; Kaur, Satinder S; Leo, Paul P; Toubia, John J; Thompson-Peach, Chloe C; Nguyen, Tran T; Maung, Kyaw Ze Ya KZY; Casolari, Debora A DA; Iarossi, Diana G DG; Pagani, Ilaria S IS; Powell, Jason J; Pitson, Stuart S; Natera, Siria S; Roessner, Ute U; Lewis, Ian D ID; Brown, Anna L AL; Tenen, Daniel G DG; Robinson, Nirmal N; Ross, David M DM; Majeti, Ravindra R; Gonda, Thomas J TJ; Thomas, Daniel D; D'Andrea, Richard J RJ
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: NDUFA11: R104L; rs199842745