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Project
Study of genomic modifiers underlying phenotypic variability of congenital heart defects and developmental disorders
The overall goal of this project is to understand genetic mechanisms underlying phenotypic variability of rare disorders, by combining deep phenotyping and genotyping in three cohorts with a different genomic architecture.
Date:1 Oct 2019 → Today
Keywords:congenital heart defects, phenotypic variability of rare disorders, genomic modifiers
Disciplines:Genetics