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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking L2hgdh and hereditary spastic paraplegia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Jellouli NK, etal., J Hum Genet. 2014 Apr;59(4):216-22. doi: 10.1038/jhg.2014.4. Epub 2014 Feb 27.
  • The annotation has been inferred from sequence orthology with L2HGDH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 additional annotations were made from Jellouli NK, etal., J Hum Genet. 2014 Apr;59(4):216-22. doi: 10.1038/jhg.2014.4. Epub 2014 Feb 27.
  • 445 RGD objects have been annotated to hereditary spastic paraplegia  (DOID:2476)
  • 9 papers in RGD have been used to annotate L2hgdh
  • Curation Notes: DNA:mutation:cds:c.241A4G(p.K81E)(human)


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