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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Aspm and primary autosomal recessive microcephaly 1 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 ASPM (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to primary autosomal recessive microcephaly 1  (DOID:0070285)
  • 15 papers in RGD have been used to annotate Aspm
  • Curation Notes: ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive
  • Original References(s): PMID:18414213 PMID:19028728 PMID:19332161 PMID:19770472 PMID:20301772 PMID:23611254 PMID:25741868 PMID:26548919 PMID:26691732 PMID:26846091 PMID:28492532 PMID:29243349 PMID:29644084 PMID:31853109 PMID:32677750 PMID:33255631 PMID:34402213


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