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Scholarly Works (1 results)

Article
Peer Reviewed

Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin

Miller, Susan;
Pan, S;
Sommese, RF;
Sallam, KI;
Nag, S;
Sutton, S;
Miller, SM;
Spudich, JA;
Ruppel, KM;
Ashley, EA

UC San Francisco Previously Published Works (2015)

BACKGROUND: As next generation sequencing for the genetic diagnosis of cardiovascular disorders becomes more widely used, establishing causality for putative disease causing variants becomes increasingly relevant. Diseases of the cardiac sarcomere provide