Intermediate-effect size p.Arg637Gln in FHOD3 increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers.
Piqueras-Flores J, Villacorta-Argüelles E, Galvin J, Climent-Payá V, Escobar-López LE, Amor-Salamanca A, Garcia-Hernandez S, Esmonde S, Martínez-Del Río J, Soto-Pérez M, et al. J Med Genet. 2024 Apr 19; 61(5):423-427. Epub 2024 Apr 19.