Search
Research
Beta
Hello! Describe your research question and I'll help you find matching datasets across 2,944 studies from AnVIL, BDC, CRDC, and KFDRC.
Smoking + BMI in heart disease
WGS for cardiovascular outcomes
RNA-Seq in pancreatic cancer
Epilepsy Genetics Initiative
Request Access
Overview
Selected Publications (2)
Variables (22)
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
Candace T. Myers, N. Stong, Emily Mountier, et al. (2017). American journal of human genetics. Cited 53 times.
https://doi.org/10.1016/j.ajhg.2017.08.013
De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy
Epilepsy Genetics Initiative. (2017). Genetics in Medicine. Cited 25 times.
https://doi.org/10.1038/gim.2017.100
