Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1004310.RAFI_hW-Dki6K0ivtZMxB36dv1iXUNEEnNmlGCeYZeWOQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1004310.RAFI_hW-Dki6K0ivtZMxB36dv1iXUNEEnNmlGCeYZeWOQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1004310.RAFI_hW-Dki6K0ivtZMxB36dv1iXUNEEnNmlGCeYZeWOQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1004310.RAFI_hW-Dki6K0ivtZMxB36dv1iXUNEEnNmlGCeYZeWOQ130_provenance.
- NP1004310.RAFI_hW-Dki6K0ivtZMxB36dv1iXUNEEnNmlGCeYZeWOQ130_assertion description "[Here, by a combined approach of homozygozity mapping and exome ciliary sequencing, we identified truncating TCTN3 mutations as the cause of an extreme form of�OFD associated with bone dysplasia, tibial defect, cystic kidneys, and brain anomalies (OFD IV, Mohr-Majewski syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1004310.RAFI_hW-Dki6K0ivtZMxB36dv1iXUNEEnNmlGCeYZeWOQ130_provenance.
- NP1004310.RAFI_hW-Dki6K0ivtZMxB36dv1iXUNEEnNmlGCeYZeWOQ130_assertion evidence source_evidence_literature NP1004310.RAFI_hW-Dki6K0ivtZMxB36dv1iXUNEEnNmlGCeYZeWOQ130_provenance.
- NP1004310.RAFI_hW-Dki6K0ivtZMxB36dv1iXUNEEnNmlGCeYZeWOQ130_assertion SIO_000772 22883145 NP1004310.RAFI_hW-Dki6K0ivtZMxB36dv1iXUNEEnNmlGCeYZeWOQ130_provenance.
- NP1004310.RAFI_hW-Dki6K0ivtZMxB36dv1iXUNEEnNmlGCeYZeWOQ130_assertion wasDerivedFrom befree-2016 NP1004310.RAFI_hW-Dki6K0ivtZMxB36dv1iXUNEEnNmlGCeYZeWOQ130_provenance.
- NP1004310.RAFI_hW-Dki6K0ivtZMxB36dv1iXUNEEnNmlGCeYZeWOQ130_assertion wasGeneratedBy ECO_0000203 NP1004310.RAFI_hW-Dki6K0ivtZMxB36dv1iXUNEEnNmlGCeYZeWOQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP1004310.RAFI_hW-Dki6K0ivtZMxB36dv1iXUNEEnNmlGCeYZeWOQ130_provenance.