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- source_evidence_literature type ECO_0000212 NP760808.RAfMXRGgXUZesCSmFouWEag022u9Fbnqrjm2muj892ffA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP760808.RAfMXRGgXUZesCSmFouWEag022u9Fbnqrjm2muj892ffA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP760808.RAfMXRGgXUZesCSmFouWEag022u9Fbnqrjm2muj892ffA130_provenance.
- NP760808.RAfMXRGgXUZesCSmFouWEag022u9Fbnqrjm2muj892ffA130_assertion description "[Heterozygous mutations of SHOX have been implicated in patients with Madelung's deformity, Leri-Weill dyschondrosteosis (77%), Turner's syndrome (66%), and idiopathic short stature (3%), and homozygous mutations of SHOX gene have been identified in patients with Langer's mesomelic dysplasia (100%).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP760808.RAfMXRGgXUZesCSmFouWEag022u9Fbnqrjm2muj892ffA130_provenance.
- NP760808.RAfMXRGgXUZesCSmFouWEag022u9Fbnqrjm2muj892ffA130_assertion evidence source_evidence_literature NP760808.RAfMXRGgXUZesCSmFouWEag022u9Fbnqrjm2muj892ffA130_provenance.
- NP760808.RAfMXRGgXUZesCSmFouWEag022u9Fbnqrjm2muj892ffA130_assertion SIO_000772 19724992 NP760808.RAfMXRGgXUZesCSmFouWEag022u9Fbnqrjm2muj892ffA130_provenance.
- NP760808.RAfMXRGgXUZesCSmFouWEag022u9Fbnqrjm2muj892ffA130_assertion wasDerivedFrom befree-2016 NP760808.RAfMXRGgXUZesCSmFouWEag022u9Fbnqrjm2muj892ffA130_provenance.
- NP760808.RAfMXRGgXUZesCSmFouWEag022u9Fbnqrjm2muj892ffA130_assertion wasGeneratedBy ECO_0000203 NP760808.RAfMXRGgXUZesCSmFouWEag022u9Fbnqrjm2muj892ffA130_provenance.
- befree-2016 importedOn "2016-02-19" NP760808.RAfMXRGgXUZesCSmFouWEag022u9Fbnqrjm2muj892ffA130_provenance.