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Browse result for Clark-Baraitser syndrome

※ introduction

    An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36.

Reference
DiseaseOntology: Clark-Baraitser syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD06787Q146699320
TRIP12
E3 ubiquitin-protein ligase TRIP12
Homo sapiens