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VARIANT - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CV300646 and neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • 3 RGD objects have been annotated to neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language  (DOID:0070050)
  • 0 papers in RGD have been used to annotate CV300646
  • Curation Notes: ClinVar Annotator: match by term: Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations


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