Genetic & Genomic MedicineCirculationPeer-reviewed
Analysis of HCM in an understudied population reveals a new mechanism of pathogenicity
Yasmine Aguib, Mona Allouba, Roddy Walsh…·Magdi Habib Yacoub
The paper identifies a frameshift variant in MYH7 associated with HCM in an Egyptian cohort, revealing a new pathogenic mechanism involving distal PTC escape from NMD.
8 citations