Partial Duplications of Haploinsufficient Genes: Always a VUS?
Back to course
Pdf Summary
Asset Subtitle
Presenting Author - Katie Rudd, PhD, FACMG; Co-Author - Jian M. Zhao, PhD; Co-Author - Zoe K. Lewis, MS, CGC; Co-Author - Bo Hong, MD, FACMG; Co-Author - Erica F. Andersen, PhD, FACMG;
Meta Tag
array CGH
Chromosomal Abnormalities
Chromosome Structure/Function
Cytogenetics
Databases
Disruption
Genomic Structure
Microarray
Co-Author Jian M. Zhao, PhD
Co-Author Zoe K. Lewis, MS, CGC
Co-Author Bo Hong, MD, FACMG
Co-Author Erica F. Andersen, PhD, FACMG
Presenting Author Katie Rudd, PhD, FACMG
Keywords
copy number variation
genetic disorders
deletions
haploinsufficient genes
duplications
variants of uncertain significance
microarray database
partial duplications
breakpoint
gene duplications

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

Powered By