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- source_evidence_literature type ECO_0000212 NP756116.RAC01O6ETQEYpWkfoR6rGlNPAwCXveGjLe4BaBBBqgyoE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP756116.RAC01O6ETQEYpWkfoR6rGlNPAwCXveGjLe4BaBBBqgyoE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP756116.RAC01O6ETQEYpWkfoR6rGlNPAwCXveGjLe4BaBBBqgyoE130_provenance.
- NP756116.RAC01O6ETQEYpWkfoR6rGlNPAwCXveGjLe4BaBBBqgyoE130_assertion description "[Mutations in fibulin-4 (EFEMP2) and fibulin-5 (FBLN5) were described to be causative for autosomal recessive cutis laxa type 1 in a few families each.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP756116.RAC01O6ETQEYpWkfoR6rGlNPAwCXveGjLe4BaBBBqgyoE130_provenance.
- NP756116.RAC01O6ETQEYpWkfoR6rGlNPAwCXveGjLe4BaBBBqgyoE130_assertion evidence source_evidence_literature NP756116.RAC01O6ETQEYpWkfoR6rGlNPAwCXveGjLe4BaBBBqgyoE130_provenance.
- NP756116.RAC01O6ETQEYpWkfoR6rGlNPAwCXveGjLe4BaBBBqgyoE130_assertion SIO_000772 19664000 NP756116.RAC01O6ETQEYpWkfoR6rGlNPAwCXveGjLe4BaBBBqgyoE130_provenance.
- NP756116.RAC01O6ETQEYpWkfoR6rGlNPAwCXveGjLe4BaBBBqgyoE130_assertion wasDerivedFrom befree-2016 NP756116.RAC01O6ETQEYpWkfoR6rGlNPAwCXveGjLe4BaBBBqgyoE130_provenance.
- NP756116.RAC01O6ETQEYpWkfoR6rGlNPAwCXveGjLe4BaBBBqgyoE130_assertion wasGeneratedBy ECO_0000203 NP756116.RAC01O6ETQEYpWkfoR6rGlNPAwCXveGjLe4BaBBBqgyoE130_provenance.
- befree-2016 importedOn "2016-02-19" NP756116.RAC01O6ETQEYpWkfoR6rGlNPAwCXveGjLe4BaBBBqgyoE130_provenance.