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1 Ergebnisse
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Disease-specific variant pathogenicity prediction significa..:
Zhang, Xiaolei
;
Walsh, Roddy
;
Whiffin, Nicola
...
https://www.repository.cam.ac.uk/handle/1810/311724. , 2021
Link:
https://www.repository.cam.ac.uk/handle/1810/311724
RT Journal T1
Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions
UL https://suche.suub.uni-bremen.de/peid=base-ftunivcam:oai:www.repository.cam.ac.uk:1810_311724&Exemplar=1&LAN=DE A1 Zhang, Xiaolei A1 Walsh, Roddy A1 Whiffin, Nicola A1 Buchan, Rachel A1 Midwinter, William A1 Wilk, Alicja A1 Govind, Risha A1 Li, Nicholas A1 Ahmad, Mian A1 Mazzarotto, Francesco A1 Roberts, Angharad A1 Theotokis, Pantazis I A1 Mazaika, Erica A1 Allouba, Mona A1 de Marvao, Antonio A1 Pua, Chee Jian A1 Day, Sharlene M A1 Ashley, Euan A1 Colan, Steven D A1 Michels, Michelle A1 Pereira, Alexandre C A1 Jacoby, Daniel A1 Ho, Carolyn Y A1 Olivotto, Iacopo A1 Gunnarsson, Gunnar T A1 Jefferies, John L A1 Semsarian, Chris A1 Ingles, Jodie A1 O'Regan, Declan P A1 Aguib, Yasmine A1 Yacoub, Magdi H A1 Cook, Stuart A A1 Barton, Paul JR A1 Bottolo, Leonardo A1 Ware, James S PB Elsevier BV; http://dx.doi.org/10.1038/s41436-020-00972-3; Genet Med YR 2021 K1 Brugada syndrome K1 cardiomyopathy K1 long QT syndrome K1 missense variant interpretation K1 pathogenicity prediction K1 Algorithms K1 Area Under Curve K1 Cardiomyopathies K1 Humans K1 Middle Aged K1 Mutation K1 Missense K1 Virulence JF https://www.repository.cam.ac.uk/handle/1810/311724 LK http://dx.doi.org/https://www.repository.cam.ac.uk/handle/1810/311724 DO https://www.repository.cam.ac.uk/handle/1810/311724 SF ELIB - SuUB Bremen
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