Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1004310.RAFI_hW-Dki6K0ivtZMxB36dv1iXUNEEnNmlGCeYZeWOQ130_assertion> ?p ?o ?g. }
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- NP1004310.RAFI_hW-Dki6K0ivtZMxB36dv1iXUNEEnNmlGCeYZeWOQ130_assertion type Assertion NP1004310.RAFI_hW-Dki6K0ivtZMxB36dv1iXUNEEnNmlGCeYZeWOQ130_head.
- NP1004310.RAFI_hW-Dki6K0ivtZMxB36dv1iXUNEEnNmlGCeYZeWOQ130_assertion wasGeneratedBy ECO_0000203 NP1004310.RAFI_hW-Dki6K0ivtZMxB36dv1iXUNEEnNmlGCeYZeWOQ130_provenance.
- NP1004310.RAFI_hW-Dki6K0ivtZMxB36dv1iXUNEEnNmlGCeYZeWOQ130_assertion wasDerivedFrom befree-2016 NP1004310.RAFI_hW-Dki6K0ivtZMxB36dv1iXUNEEnNmlGCeYZeWOQ130_provenance.
- NP1004310.RAFI_hW-Dki6K0ivtZMxB36dv1iXUNEEnNmlGCeYZeWOQ130_assertion SIO_000772 22883145 NP1004310.RAFI_hW-Dki6K0ivtZMxB36dv1iXUNEEnNmlGCeYZeWOQ130_provenance.
- NP1004310.RAFI_hW-Dki6K0ivtZMxB36dv1iXUNEEnNmlGCeYZeWOQ130_assertion evidence source_evidence_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.