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13350 : Exome Sequencing Identifies a Novel Variant in ACTC1 Segregating in a Family with Atrial Septal Defects

Researchers

Presenter

  • Ross McLoed

Principal Investigators

  • Stacey Hume

  • Nicole Roslin

  • Nanette Alvarez

  • Michael Giuffre

  • Shing Zhan

  • Yaoqing Shen

  • Steven Jones

Medical Centers

  • Univ of Calgary, Calgary, Canada

  • Univ. of Alberta, Edmonton, Alberta, Canada.

  • Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada

  • The Hosp for Sick Children and Res Inst, Toronto, ON, Canada

Locations

  • Canada

Companies

  • N/A

Study Components

Therapeutic Area

  • Cardiovascular (CVS)

Disease

  • Atrial septal defect

  • Heart muscle disease

Biomarkers

  • Actin, Alpha, Cardiac Muscle 1

Drug/Treatment

  • N/A

Outcome

  • N/A

Study Design

  • N/A

Phase

  • NA

Study Id's

  • N/A

Sponsors

  • N/A

Result

  • Interim

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