Cell BiologybioRxivPreprint
The SMYD1 p.Asn101Ser is a partial loss-of-function variant that impairs mitochondrial function and leads to early-onset cardiomyopathy.
Marta W. Szulik, Clint Gwynn, Magnus Creed…·Sarah Franklin
This study functionally characterizes a SMYD1 variant linked to early-onset cardiomyopathy, showing it impairs mitochondrial function and leads to disease.
DOI 10.64898/2026.07.28.741372