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Paper Details

Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disability.
J Med Genet
5
2022
Ala73Thr, DD, DD/, G, G proteins, G subunit, G units, G-proteins, GNB2, GNB2 variant, GNB2 variants, Gly77Arg, Human, ID, Lys89Glu, Lys89Thr, PURPOSE Binding proteins, developmental delay, dysmorphism, intellectual disability, neurodevelopmental disease, neurodevelopmental disorder, patient, syndromic, syndromic intellectual disability
Author NameAffiliation
Alistair T PagnamentaUniversity of Oxford
Edwin H CookInstitute for Juvenile Research, University of Illinois at Chicago
Stephen J GuterInstitute for Juvenile Research, University of Illinois at Chicago
Jenny C TaylorUniversity of Oxford
John ChristodoulouVictorian Clinical Genetics Services
John ChristodoulouMurdoch Children's Research Institute
John ChristodoulouThe University of Melbourne
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