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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking LEPR and Hypercholesterolemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
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  • The annotation was made from Swellam M and Hamdy N, IUBMB Life. 2012 Feb;64(2):180-6. doi: 10.1002/iub.597. Epub 2012 Jan 3.
  • 11 additional annotations were made from Swellam M and Hamdy N, IUBMB Life. 2012 Feb;64(2):180-6. doi: 10.1002/iub.597. Epub 2012 Jan 3.
  • 101 RGD objects have been annotated to Hypercholesterolemia  (HP:0003124)
  • 69 papers in RGD have been used to annotate LEPR
  • Curation Notes: DNA:SNP:intron:c.2673+1118C>T (rs6700896) (human)


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