Screening and Functional Validation of Genetic Variants in Human Congenital Anomalies (R01)
This R01 supports projects that identify, prioritize, and functionally validate genomic variants associated with structural, developmental, or metabolic congenital anomalies using in-silico analyses, cell-based assays, and appropriate animal models. The aim is to accelerate variant-to-function discovery to improve molecular diagnosis, prevention, and treatment of birth defects; clinical trials…
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