Detalhe da pesquisa
1.
DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy.
BMC Med Genet
; 21(1): 19, 2020 01 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-32005173
2.
The Cardiomyopathy Registry of the EURObservational Research Programme of the European Society of Cardiology: baseline data and contemporary management of adult patients with cardiomyopathies.
Eur Heart J
; 39(20): 1784-1793, 2018 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-29378019
3.
Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.
PLoS One
; 13(9): e0203422, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30235249