Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP653470.RABhsogO_NtbCP03GGWpR4o6_W6O7Kb9zFmjWAQFuA5oQ130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP653470.RABhsogO_NtbCP03GGWpR4o6_W6O7Kb9zFmjWAQFuA5oQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP653470.RABhsogO_NtbCP03GGWpR4o6_W6O7Kb9zFmjWAQFuA5oQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP653470.RABhsogO_NtbCP03GGWpR4o6_W6O7Kb9zFmjWAQFuA5oQ130_provenance.
- NP653470.RABhsogO_NtbCP03GGWpR4o6_W6O7Kb9zFmjWAQFuA5oQ130_assertion description "[We had previously demonstrated that a complete loss of function in ZMPSTE24 was lethal in the neonatal period, whereas compound heterozygous mutations including one PTC and one missense mutation were associated with type B mandibuloacral dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP653470.RABhsogO_NtbCP03GGWpR4o6_W6O7Kb9zFmjWAQFuA5oQ130_provenance.
- NP653470.RABhsogO_NtbCP03GGWpR4o6_W6O7Kb9zFmjWAQFuA5oQ130_assertion evidence source_evidence_literature NP653470.RABhsogO_NtbCP03GGWpR4o6_W6O7Kb9zFmjWAQFuA5oQ130_provenance.
- NP653470.RABhsogO_NtbCP03GGWpR4o6_W6O7Kb9zFmjWAQFuA5oQ130_assertion SIO_000772 21267004 NP653470.RABhsogO_NtbCP03GGWpR4o6_W6O7Kb9zFmjWAQFuA5oQ130_provenance.
- NP653470.RABhsogO_NtbCP03GGWpR4o6_W6O7Kb9zFmjWAQFuA5oQ130_assertion wasDerivedFrom befree-20150227 NP653470.RABhsogO_NtbCP03GGWpR4o6_W6O7Kb9zFmjWAQFuA5oQ130_provenance.
- NP653470.RABhsogO_NtbCP03GGWpR4o6_W6O7Kb9zFmjWAQFuA5oQ130_assertion wasGeneratedBy ECO_0000203 NP653470.RABhsogO_NtbCP03GGWpR4o6_W6O7Kb9zFmjWAQFuA5oQ130_provenance.
- befree-20150227 importedOn "2015-02-27" NP653470.RABhsogO_NtbCP03GGWpR4o6_W6O7Kb9zFmjWAQFuA5oQ130_provenance.