Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP135549.RADD18Dq1eQfTjZpElUhCUzyC2dnrLIAUFKAuU7hgV6y4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP135549.RADD18Dq1eQfTjZpElUhCUzyC2dnrLIAUFKAuU7hgV6y4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP135549.RADD18Dq1eQfTjZpElUhCUzyC2dnrLIAUFKAuU7hgV6y4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP135549.RADD18Dq1eQfTjZpElUhCUzyC2dnrLIAUFKAuU7hgV6y4130_provenance.
- NP135549.RADD18Dq1eQfTjZpElUhCUzyC2dnrLIAUFKAuU7hgV6y4130_assertion description "[Within 9 dentin dysplasia (type II) and dentinogenesis imperfecta (type II and III) patient/families, 7 have 1 of 4 net -1 deletions within the a 2-kb coding repeat domain of the DSPP gene while the remaining 2 patients have splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135549.RADD18Dq1eQfTjZpElUhCUzyC2dnrLIAUFKAuU7hgV6y4130_provenance.
- NP135549.RADD18Dq1eQfTjZpElUhCUzyC2dnrLIAUFKAuU7hgV6y4130_assertion evidence source_evidence_literature NP135549.RADD18Dq1eQfTjZpElUhCUzyC2dnrLIAUFKAuU7hgV6y4130_provenance.
- NP135549.RADD18Dq1eQfTjZpElUhCUzyC2dnrLIAUFKAuU7hgV6y4130_assertion SIO_000772 18521831 NP135549.RADD18Dq1eQfTjZpElUhCUzyC2dnrLIAUFKAuU7hgV6y4130_provenance.
- NP135549.RADD18Dq1eQfTjZpElUhCUzyC2dnrLIAUFKAuU7hgV6y4130_assertion wasDerivedFrom lhgdn-20090331 NP135549.RADD18Dq1eQfTjZpElUhCUzyC2dnrLIAUFKAuU7hgV6y4130_provenance.
- NP135549.RADD18Dq1eQfTjZpElUhCUzyC2dnrLIAUFKAuU7hgV6y4130_assertion wasGeneratedBy ECO_0000203 NP135549.RADD18Dq1eQfTjZpElUhCUzyC2dnrLIAUFKAuU7hgV6y4130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP135549.RADD18Dq1eQfTjZpElUhCUzyC2dnrLIAUFKAuU7hgV6y4130_provenance.