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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking B4galt7 and Torrance type platyspondylic dysplasia in Heterocephalus glaber.        

  • 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 B4GALT7 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Torrance type platyspondylic dysplasia  (DOID:0111508)
  • 0 papers in RGD have been used to annotate B4galt7
  • Curation Notes: ClinVar Annotator: match by term: Lethal skeletal dysplasia
  • Original References(s): PMID:1221956 PMID:15211654 PMID:1640425 PMID:18158310 PMID:20691685 PMID:20809901 PMID:23956117 PMID:24755949 PMID:25533962 PMID:25741868 PMID:26940150 PMID:28492532 PMID:31278392


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