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- source_evidence_literature type ECO_0000212 NP788568.RAAv2Eb1InwLzj82jRWDojlNRyB_b_qaVvbq-iaBNEjek130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP788568.RAAv2Eb1InwLzj82jRWDojlNRyB_b_qaVvbq-iaBNEjek130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP788568.RAAv2Eb1InwLzj82jRWDojlNRyB_b_qaVvbq-iaBNEjek130_provenance.
- NP788568.RAAv2Eb1InwLzj82jRWDojlNRyB_b_qaVvbq-iaBNEjek130_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." NP788568.RAAv2Eb1InwLzj82jRWDojlNRyB_b_qaVvbq-iaBNEjek130_provenance.
- NP788568.RAAv2Eb1InwLzj82jRWDojlNRyB_b_qaVvbq-iaBNEjek130_assertion evidence source_evidence_literature NP788568.RAAv2Eb1InwLzj82jRWDojlNRyB_b_qaVvbq-iaBNEjek130_provenance.
- NP788568.RAAv2Eb1InwLzj82jRWDojlNRyB_b_qaVvbq-iaBNEjek130_assertion SIO_000772 21267004 NP788568.RAAv2Eb1InwLzj82jRWDojlNRyB_b_qaVvbq-iaBNEjek130_provenance.
- NP788568.RAAv2Eb1InwLzj82jRWDojlNRyB_b_qaVvbq-iaBNEjek130_assertion wasDerivedFrom befree-20150227 NP788568.RAAv2Eb1InwLzj82jRWDojlNRyB_b_qaVvbq-iaBNEjek130_provenance.
- NP788568.RAAv2Eb1InwLzj82jRWDojlNRyB_b_qaVvbq-iaBNEjek130_assertion wasGeneratedBy ECO_0000203 NP788568.RAAv2Eb1InwLzj82jRWDojlNRyB_b_qaVvbq-iaBNEjek130_provenance.
- befree-20150227 importedOn "2015-02-27" NP788568.RAAv2Eb1InwLzj82jRWDojlNRyB_b_qaVvbq-iaBNEjek130_provenance.