Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP644735.RA6D6N_gTD8Cp5s052fQjJLVVAVFnP4E7mFw7OBAvqing130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP644735.RA6D6N_gTD8Cp5s052fQjJLVVAVFnP4E7mFw7OBAvqing130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP644735.RA6D6N_gTD8Cp5s052fQjJLVVAVFnP4E7mFw7OBAvqing130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP644735.RA6D6N_gTD8Cp5s052fQjJLVVAVFnP4E7mFw7OBAvqing130_provenance.
- NP644735.RA6D6N_gTD8Cp5s052fQjJLVVAVFnP4E7mFw7OBAvqing130_assertion description "[Mutation in ZMPSTE24 gene, encoding a major metalloprotease, leads to defective prelamin A processing and causes type B mandibuloacral dysplasia, as well as the lethal neonatal restrictive dermopathy syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP644735.RA6D6N_gTD8Cp5s052fQjJLVVAVFnP4E7mFw7OBAvqing130_provenance.
- NP644735.RA6D6N_gTD8Cp5s052fQjJLVVAVFnP4E7mFw7OBAvqing130_assertion evidence source_evidence_literature NP644735.RA6D6N_gTD8Cp5s052fQjJLVVAVFnP4E7mFw7OBAvqing130_provenance.
- NP644735.RA6D6N_gTD8Cp5s052fQjJLVVAVFnP4E7mFw7OBAvqing130_assertion SIO_000772 21267004 NP644735.RA6D6N_gTD8Cp5s052fQjJLVVAVFnP4E7mFw7OBAvqing130_provenance.
- NP644735.RA6D6N_gTD8Cp5s052fQjJLVVAVFnP4E7mFw7OBAvqing130_assertion wasDerivedFrom befree-20140225 NP644735.RA6D6N_gTD8Cp5s052fQjJLVVAVFnP4E7mFw7OBAvqing130_provenance.
- NP644735.RA6D6N_gTD8Cp5s052fQjJLVVAVFnP4E7mFw7OBAvqing130_assertion wasGeneratedBy ECO_0000203 NP644735.RA6D6N_gTD8Cp5s052fQjJLVVAVFnP4E7mFw7OBAvqing130_provenance.
- befree-20140225 importedOn "2014-02-25" NP644735.RA6D6N_gTD8Cp5s052fQjJLVVAVFnP4E7mFw7OBAvqing130_provenance.