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- source_evidence_literature type ECO_0000212 NP715828.RA2ol8_kLQ5XPUTI8OedKfsZVGV1QeaqJ1qsd9ogYBuMM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP715828.RA2ol8_kLQ5XPUTI8OedKfsZVGV1QeaqJ1qsd9ogYBuMM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP715828.RA2ol8_kLQ5XPUTI8OedKfsZVGV1QeaqJ1qsd9ogYBuMM130_provenance.
- NP715828.RA2ol8_kLQ5XPUTI8OedKfsZVGV1QeaqJ1qsd9ogYBuMM130_assertion description "[We here report 22 novel and 9 recurrent mutations in the FBN1 gene in 36 patients with clinical features of Marfan syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP715828.RA2ol8_kLQ5XPUTI8OedKfsZVGV1QeaqJ1qsd9ogYBuMM130_provenance.
- NP715828.RA2ol8_kLQ5XPUTI8OedKfsZVGV1QeaqJ1qsd9ogYBuMM130_assertion evidence source_evidence_literature NP715828.RA2ol8_kLQ5XPUTI8OedKfsZVGV1QeaqJ1qsd9ogYBuMM130_provenance.
- NP715828.RA2ol8_kLQ5XPUTI8OedKfsZVGV1QeaqJ1qsd9ogYBuMM130_assertion SIO_000772 19159394 NP715828.RA2ol8_kLQ5XPUTI8OedKfsZVGV1QeaqJ1qsd9ogYBuMM130_provenance.
- NP715828.RA2ol8_kLQ5XPUTI8OedKfsZVGV1QeaqJ1qsd9ogYBuMM130_assertion wasDerivedFrom befree-2016 NP715828.RA2ol8_kLQ5XPUTI8OedKfsZVGV1QeaqJ1qsd9ogYBuMM130_provenance.
- NP715828.RA2ol8_kLQ5XPUTI8OedKfsZVGV1QeaqJ1qsd9ogYBuMM130_assertion wasGeneratedBy ECO_0000203 NP715828.RA2ol8_kLQ5XPUTI8OedKfsZVGV1QeaqJ1qsd9ogYBuMM130_provenance.
- befree-2016 importedOn "2016-02-19" NP715828.RA2ol8_kLQ5XPUTI8OedKfsZVGV1QeaqJ1qsd9ogYBuMM130_provenance.