Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP153315.RAMMx3zP2Tg0a20szXONKwiIfZ7h6FFRHt5MB4i41Rbwc130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP153315.RAMMx3zP2Tg0a20szXONKwiIfZ7h6FFRHt5MB4i41Rbwc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP153315.RAMMx3zP2Tg0a20szXONKwiIfZ7h6FFRHt5MB4i41Rbwc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP153315.RAMMx3zP2Tg0a20szXONKwiIfZ7h6FFRHt5MB4i41Rbwc130_provenance.
- NP153315.RAMMx3zP2Tg0a20szXONKwiIfZ7h6FFRHt5MB4i41Rbwc130_assertion wasGeneratedBy ECO_0000203 NP153315.RAMMx3zP2Tg0a20szXONKwiIfZ7h6FFRHt5MB4i41Rbwc130_provenance.
- NP153315.RAMMx3zP2Tg0a20szXONKwiIfZ7h6FFRHt5MB4i41Rbwc130_assertion wasDerivedFrom lhgdn-20090331 NP153315.RAMMx3zP2Tg0a20szXONKwiIfZ7h6FFRHt5MB4i41Rbwc130_provenance.
- NP153315.RAMMx3zP2Tg0a20szXONKwiIfZ7h6FFRHt5MB4i41Rbwc130_assertion SIO_000772 16205833 NP153315.RAMMx3zP2Tg0a20szXONKwiIfZ7h6FFRHt5MB4i41Rbwc130_provenance.
- NP153315.RAMMx3zP2Tg0a20szXONKwiIfZ7h6FFRHt5MB4i41Rbwc130_assertion evidence source_evidence_literature NP153315.RAMMx3zP2Tg0a20szXONKwiIfZ7h6FFRHt5MB4i41Rbwc130_provenance.
- NP153315.RAMMx3zP2Tg0a20szXONKwiIfZ7h6FFRHt5MB4i41Rbwc130_assertion description "[Mutation analysis of the CBS gene in Korean patients with homocystinuria was performed/mutations were identified, including four known mutations (T257M, R336C, T353M, and G347S) and four novel mutations (L154Q, A155V, del234D, and A288T).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP153315.RAMMx3zP2Tg0a20szXONKwiIfZ7h6FFRHt5MB4i41Rbwc130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP153315.RAMMx3zP2Tg0a20szXONKwiIfZ7h6FFRHt5MB4i41Rbwc130_provenance.