De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.

De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.

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http://www.wikidata.org/entity/Q53212278
Phase Transition in Postsynaptic Densities Underlies Formation of Synaptic Complexes and Synaptic PlasticityPrioritizing the development of mouse models for childhood brain disordersAnalysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.Emerging Synaptic Molecules as Candidates in the Etiology of Neurological Disorders.Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis.Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.Anchoring high concentrations of SynGAP at postsynaptic densities via liquid-liquid phase separation.The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators.Improved Scalability of Neuron-Based Phenotypic Screening Assays for Therapeutic Discovery in Neuropsychiatric Disorders.Species-conserved SYNGAP1 phenotypes associated with neurodevelopmental disorders.Common terms for rare epilepsies: Synonyms, associated terms, and links to structured vocabularies.Genomics of autism spectrum disorder: approach to therapy.Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a likely pathogenic variant
P2860

De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.

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http://www.wikidata.org/entity/Q53212278
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De novo, heterozygous, loss-of ...... rm of intellectual disability.
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De novo, heterozygous, loss-of ...... rm of intellectual disability.
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type
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De novo, heterozygous, loss-of ...... rm of intellectual disability.
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De novo, heterozygous, loss-of ...... rm of intellectual disability.
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prefLabel
De novo, heterozygous, loss-of ...... rm of intellectual disability.
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De novo, heterozygous, loss-of ...... rm of intellectual disability.
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De novo, heterozygous, loss-of ...... orm of intellectual disability
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932