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Paper Details

An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain.
Ann Neurol
6
2022
Arg209Trp, COE, COE family, COE family member, Collier, EBF, EBF3, EBF3 Missense Variants, EBF3 gene variants, EBF3 variant, EBF3 variants, EBF3-, EBF3-related NDD, Early B-cell Factor-3, GAL4, NDD, Olf, UAS, ZNF, ZNF-associated variants, Zinc, autism spectrum, fruit, heterozygous loss-of-function variants, luciferase, neurodevelopmental disorders, neurological disease, patient, patients, target DNA sequence, zinc
Author NameAffiliation
Enza Maria ValenteUniversity of Pavia
Enza Maria ValenteNeurogenetics Research Centre, IRCCS Mondino Foundation
Enrico BertiniBambino Gesu Children's Research Hospital IRCCS
Enrico BertiniBambino Gesu Children's Research Hospital IRCCS
Michael F WanglerJan and Dan Duncan Neurological Research Institute, Texas Children's Hospital
Michael F WanglerBaylor College of Medicine
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