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Paper Details

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.
Am J Hum Genet
102
2017
Asn39Ser, Cys157Tyr, Cys18Tyr, Developmental Disorders, HACE1, RAC1, RAC1 mutations, RAC1 variants, Rho GTPase, TRIO, Tyr64Asp, Val51Leu) alleles, Val51Met, brain malformations, c, c., c.116A, c.151G, c.190T, c.470G, cerebellar abnormalities, developmental delay, developmental disorders, dominant-negative alleles, macrocephalic, microcephalic, microcephaly, mouse, mouse fibroblasts, neuronal proliferation, p, ultra-rare disorders, zebrafish
Author NameAffiliation
Perciliz L TanCenter for Human Disease Modeling, Duke University
Jill Clayton-SmithSt. Mary's Hospital, Central Manchester NHS Foundation Trust, University of Manchester
Shehla MohammedGuy's and St Thomas' Hospital
Nicholas KatsanisCenter for Human Disease Modeling, Duke University
Nicholas KatsanisCenter for Human Disease Modeling, Duke University
Han G BrunnerRadboud University Medical Center, Maastricht University Medical Center
Siddharth BankaSt. Mary's Hospital, Central Manchester NHS Foundation Trust, University of Manchester
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