GenomicsbioRxiv
Multi-dimensional structure function relationships in human β-cardiac myosin from population scale genetic variation.
Julian R Homburger, Eric M Green, Colleen Caleshu…·Euan A Ashley
This study combines structural models of myosin, exome sequencing, and phenotypic data to identify disease-associated variants in specific structural regions of β-cardiac myosin linked to HCM severity.
DOI 10.1073/pnas.1606950113