Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01
Variant appearance in text: TTN: G30687S; rs375190050
Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy.
Scientific Reports
Akinrinade, Oyediran O; Heliö, Tiina T; Lekanne Deprez, Ronald H RH; Jongbloed, Jan D H JDH; Boven, Ludolf G LG; van den Berg, Maarten P MP; Pinto, Yigal M YM; Alastalo, Tero-Pekka TP; Myllykangas, Samuel S; Spaendonck-Zwarts, Karin van KV; van Tintelen, J Peter JP; van der Zwaag, Paul A PA; Koskenvuo, Juha J
Publication Date: 2019-03-11
Variant appearance in text: TTN: 92059G>A; Gly30687Ser
Age-related mutations associated with clonal hematopoietic expansion and malignancies.
Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L