Genetic Burden of TNNI3K in Diagnostic Testing of Patients With Dilated Cardiomyopathy and Supraventricular Arrhythmias.
Caroline PhamKarolina AndrzejczykSean Joseph JurgensRonald H Lekanne DeprezKaylin C A PalmAlexa M C VermeerJanneke NijmanImke ChristiaansPascal F H M van DesselLeander BeekmanSeung Hoan ChoiSteven A LubitzDoris Skoric-MilosavljevicLisa M van den BersselaarPhilip R JansenJaël S CopierPatrick T EllinorArthur A M WildeConnie R BezzinaElisabeth M LodderPublished in: Circulation. Genomic and precision medicine (2023)
variants with increased autophosphorylation, suggesting that enhanced autophosphorylation is likely to drive pathogenicity.