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1 Annotations Found.

An association has been curated linking Slc6a8 and deafness, dystonia, and cerebral hypomyelination in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SLC6A8 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to deafness, dystonia, and cerebral hypomyelination  (DOID:0112123)
  • 19 papers in RGD have been used to annotate Slc6a8
  • Curation Notes: ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
  • Original References(s): PMID:24011989

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