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- source_evidence_literature type ECO_0000212 NP550067.RAwo-n46DDnJP22WuGnBVt4wKyuJtqb95K1mUSmcRboZQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP550067.RAwo-n46DDnJP22WuGnBVt4wKyuJtqb95K1mUSmcRboZQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP550067.RAwo-n46DDnJP22WuGnBVt4wKyuJtqb95K1mUSmcRboZQ130_provenance.
- NP550067.RAwo-n46DDnJP22WuGnBVt4wKyuJtqb95K1mUSmcRboZQ130_assertion description "[Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disease characterized by arteriovenous malformations and resulting from mutations in two major genes: ENG and ACVRL1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP550067.RAwo-n46DDnJP22WuGnBVt4wKyuJtqb95K1mUSmcRboZQ130_provenance.
- NP550067.RAwo-n46DDnJP22WuGnBVt4wKyuJtqb95K1mUSmcRboZQ130_assertion evidence source_evidence_literature NP550067.RAwo-n46DDnJP22WuGnBVt4wKyuJtqb95K1mUSmcRboZQ130_provenance.
- NP550067.RAwo-n46DDnJP22WuGnBVt4wKyuJtqb95K1mUSmcRboZQ130_assertion SIO_000772 16705692 NP550067.RAwo-n46DDnJP22WuGnBVt4wKyuJtqb95K1mUSmcRboZQ130_provenance.
- NP550067.RAwo-n46DDnJP22WuGnBVt4wKyuJtqb95K1mUSmcRboZQ130_assertion wasDerivedFrom befree-2016 NP550067.RAwo-n46DDnJP22WuGnBVt4wKyuJtqb95K1mUSmcRboZQ130_provenance.
- NP550067.RAwo-n46DDnJP22WuGnBVt4wKyuJtqb95K1mUSmcRboZQ130_assertion wasGeneratedBy ECO_0000203 NP550067.RAwo-n46DDnJP22WuGnBVt4wKyuJtqb95K1mUSmcRboZQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP550067.RAwo-n46DDnJP22WuGnBVt4wKyuJtqb95K1mUSmcRboZQ130_provenance.