Genetic & Genomic MedicinemedRxivPreprint
Proteomics Uncovers Cryptic JPH2 Loss in Paediatric Dilated Cardiomyopathy
Carlos C. Smith-Díaz, Valerii Iaprintsev, Hannah Huckstep…·Jodie Ingles
This study uses proteomics to identify a cryptic JPH2 loss-of-function in a paediatric DCM patient, revealing a novel mechanism of recessive disease.
DOI 10.64898/2026.06.16.26355718