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- source_evidence_literature type ECO_0000212 NP773420.RApn9Kbg1oGEP-hFD30ssT03igqXAuqFms1JM537sYgyQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP773420.RApn9Kbg1oGEP-hFD30ssT03igqXAuqFms1JM537sYgyQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP773420.RApn9Kbg1oGEP-hFD30ssT03igqXAuqFms1JM537sYgyQ130_provenance.
- NP773420.RApn9Kbg1oGEP-hFD30ssT03igqXAuqFms1JM537sYgyQ130_assertion description "[Loss-of-function mutations in the G4.5 gene have been shown to cause Barth syndrome (BTHS), an X-linked disorder characterized by cardiac and skeletal myopathy, short stature, and neutropenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP773420.RApn9Kbg1oGEP-hFD30ssT03igqXAuqFms1JM537sYgyQ130_provenance.
- NP773420.RApn9Kbg1oGEP-hFD30ssT03igqXAuqFms1JM537sYgyQ130_assertion evidence source_evidence_literature NP773420.RApn9Kbg1oGEP-hFD30ssT03igqXAuqFms1JM537sYgyQ130_provenance.
- NP773420.RApn9Kbg1oGEP-hFD30ssT03igqXAuqFms1JM537sYgyQ130_assertion SIO_000772 9382097 NP773420.RApn9Kbg1oGEP-hFD30ssT03igqXAuqFms1JM537sYgyQ130_provenance.
- NP773420.RApn9Kbg1oGEP-hFD30ssT03igqXAuqFms1JM537sYgyQ130_assertion wasDerivedFrom befree-20140225 NP773420.RApn9Kbg1oGEP-hFD30ssT03igqXAuqFms1JM537sYgyQ130_provenance.
- NP773420.RApn9Kbg1oGEP-hFD30ssT03igqXAuqFms1JM537sYgyQ130_assertion wasGeneratedBy ECO_0000203 NP773420.RApn9Kbg1oGEP-hFD30ssT03igqXAuqFms1JM537sYgyQ130_provenance.
- befree-20140225 importedOn "2014-02-25" NP773420.RApn9Kbg1oGEP-hFD30ssT03igqXAuqFms1JM537sYgyQ130_provenance.