Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.
Juha W KoskenvuoInka SaarinenSaija AhonenJohanna TommiskaSini WeckströmEija H SeppäläSari TuupanenTiia Kangas-KontioJennifer SchleitKrista HeliöJulie HathawayAnders GummessonPia DahlbergTiina H OjalaVille VepsäläinenVille KytöläMikko MuonaJohanna SistonenPertteli SalmenperäMassimiliano GentileJussi PaananenSamuel MyllykangasTero-Pekka AlastaloTiina HeliöPublished in: PloS one (2021)
Loss-of-function in NRAP is a cause for autosomal recessive dilated cardiomyopathy, supporting its inclusion in comprehensive genetic testing.