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Paper Details

Prioritizing de novo autism risk variants with calibrated gene- and variant-scoring models.
Hum Genet
1
2022
ASD, ASD risk genes, Phe309Ser, autism, autism spectrum disorder, exonic variants, human, loss-of-function variants, p.Phe309Ser, patients, potassium, risk genes, sodium, sodium/potassium-transporting ATPase ATP1A3, spatio
Author NameAffiliation
Yuxiang JiangIndiana University
Kymberleigh A PagelIndiana University
Kymberleigh A PagelInstitute for Computational Medicine, Johns Hopkins University
Predrag RadivojacKhoury College of Computer Sciences, Northeastern University
Predrag RadivojacKhoury College of Computer Sciences, Northeastern University
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Release 1.2