Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP499362.RAxXCKZ555041zyGVElwON2pbZMN_gU1f0G_ja1N6gz6M130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP499362.RAxXCKZ555041zyGVElwON2pbZMN_gU1f0G_ja1N6gz6M130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP499362.RAxXCKZ555041zyGVElwON2pbZMN_gU1f0G_ja1N6gz6M130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP499362.RAxXCKZ555041zyGVElwON2pbZMN_gU1f0G_ja1N6gz6M130_provenance.
- NP499362.RAxXCKZ555041zyGVElwON2pbZMN_gU1f0G_ja1N6gz6M130_assertion description "[In addition to the normal 68 kDa tropoelastin (TE) protein, an abnormal, 120 kDa polypeptide was detected in the proband and her affected daughter in a CL family characterized by hernias and unusually severe and early-onset pulmonary disease including bronchiectasis and pulmonary emphysema.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP499362.RAxXCKZ555041zyGVElwON2pbZMN_gU1f0G_ja1N6gz6M130_provenance.
- NP499362.RAxXCKZ555041zyGVElwON2pbZMN_gU1f0G_ja1N6gz6M130_assertion evidence source_evidence_literature NP499362.RAxXCKZ555041zyGVElwON2pbZMN_gU1f0G_ja1N6gz6M130_provenance.
- NP499362.RAxXCKZ555041zyGVElwON2pbZMN_gU1f0G_ja1N6gz6M130_assertion SIO_000772 15955094 NP499362.RAxXCKZ555041zyGVElwON2pbZMN_gU1f0G_ja1N6gz6M130_provenance.
- NP499362.RAxXCKZ555041zyGVElwON2pbZMN_gU1f0G_ja1N6gz6M130_assertion wasDerivedFrom befree-2016 NP499362.RAxXCKZ555041zyGVElwON2pbZMN_gU1f0G_ja1N6gz6M130_provenance.
- NP499362.RAxXCKZ555041zyGVElwON2pbZMN_gU1f0G_ja1N6gz6M130_assertion wasGeneratedBy ECO_0000203 NP499362.RAxXCKZ555041zyGVElwON2pbZMN_gU1f0G_ja1N6gz6M130_provenance.
- befree-2016 importedOn "2016-02-19" NP499362.RAxXCKZ555041zyGVElwON2pbZMN_gU1f0G_ja1N6gz6M130_provenance.