Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Nature Communications
Halford, Jennifer L JL; Morrill, Valerie N VN; Choi, Seung Hoan SH; Jurgens, Sean J SJ; Melloni, Giorgio G; Marston, Nicholas A NA; Weng, Lu-Chen LC; Nauffal, Victor V; Hall, Amelia W AW; Gunn, Sophia S; Austin-Tse, Christina A CA; Pirruccello, James P JP; Khurshid, Shaan S; Rehm, Heidi L HL; Benjamin, Emelia J EJ; Boerwinkle, Eric E; Brody, Jennifer A JA; Correa, Adolfo A; Fornwalt, Brandon K BK; Gupta, Namrata N; Haggerty, Christopher M CM; Harris, Stephanie S; Heckbert, Susan R SR; Hong, Charles C CC; Kooperberg, Charles C; Lin, Henry J HJ; Loos, Ruth J F RJF; Mitchell, Braxton D BD; Morrison, Alanna C AC; Post, Wendy W; Psaty, Bruce M BM; Redline, Susan S; Rice, Kenneth M KM; Rich, Stephen S SS; Rotter, Jerome I JI; Schnatz, Peter F PF; Soliman, Elsayed Z EZ; Sotoodehnia, Nona N; Wong, Eugene K EK; , ; Sabatine, Marc S MS; Ruff, Christian T CT; Lunetta, Kathryn L KL; Ellinor, Patrick T PT; Lubitz, Steven A SA
The Double Mutation DSG2-p.S363X and TBX20-p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report.
International Journal Of Molecular Sciences
Myasnikov, Roman R; Brodehl, Andreas A; Meshkov, Alexey A; Kulikova, Olga O; Kiseleva, Anna A; Pohl, Greta Marie GM; Sotnikova, Evgeniia E; Divashuk, Mikhail M; Klimushina, Marina M; Zharikova, Anastasia A; Pokrovskaya, Maria M; Koretskiy, Sergey S; Kharlap, Maria M; Mershina, Elena E; Sinitsyn, Valentin V; Basargina, Elena E; Gandaeva, Leila L; Barskiy, Vladimir V; Boytsov, Sergey S; Milting, Hendrik H; Drapkina, Oxana O
Publication Date: 2021-06-24
Variant appearance in text: SCN5A: 4532G>T; R1511L; rs368219299