Functional Analysis Provides Insight into Missing Heritability
Back to course
Pdf Summary
Asset Subtitle
Presenting Author - Scott Baughan, BS; Co-Author - Michael A. Tainsky, PhD; Co-Author - Fatima Darwiche, MS;
Meta Tag
Clinical History
Counseling
Genetic Testing
Pathogenesis
Polymorphism
Risk Assessment
Sequencing
Susceptibility Locus
Variant Detection
Co-Author Michael A. Tainsky, PhD
Co-Author Fatima Darwiche, MS
Presenting Author Scott Baughan, BS
Keywords
functional analysis
ATM variants
DNA repair efficacy
variants activity
C-Terminal BRCA2 variant
K3326X
BRCA2 impairment
genetic risk prediction
missense mutations
variant risk assessment

© 2024 American College of Medical Genetics and Genomics. All rights reserved.

Powered By