• Learning Objective 1:Know the meanings of penetrance, expressivity, and heterogeneity in genetic disorders
  • Learning Objective 2:List common sources of uncertainty in genetic variant interpretation
  • Learning Objective 3:Understand how functional studies can contribute to the definition and diagnosis of ultra-rare genetic disorders
Session date: 
10/28/2022 - 12:00pm to 1:00pm CDT
United States
  • 1.00 AMA PRA Category 1 Credit™
  • 1.00 Participation

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Speaker Name: 
Sho Yano, MD, Ph.D