Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP1866.RATMh6lTvKB3SSo1rwdoEcjV0UNMDhfAPIw_dCf61JxW4130_assertion> ?p ?o ?g. }
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- NP1866.RATMh6lTvKB3SSo1rwdoEcjV0UNMDhfAPIw_dCf61JxW4130_assertion type Assertion NP1866.RATMh6lTvKB3SSo1rwdoEcjV0UNMDhfAPIw_dCf61JxW4130_head.
- NP1866.RATMh6lTvKB3SSo1rwdoEcjV0UNMDhfAPIw_dCf61JxW4130_assertion wasGeneratedBy ECO_0000218 NP1866.RATMh6lTvKB3SSo1rwdoEcjV0UNMDhfAPIw_dCf61JxW4130_provenance.
- NP1866.RATMh6lTvKB3SSo1rwdoEcjV0UNMDhfAPIw_dCf61JxW4130_assertion wasDerivedFrom uniprot-20130724 NP1866.RATMh6lTvKB3SSo1rwdoEcjV0UNMDhfAPIw_dCf61JxW4130_provenance.
- NP1866.RATMh6lTvKB3SSo1rwdoEcjV0UNMDhfAPIw_dCf61JxW4130_assertion SIO_000772 23456818 NP1866.RATMh6lTvKB3SSo1rwdoEcjV0UNMDhfAPIw_dCf61JxW4130_provenance.
- NP1866.RATMh6lTvKB3SSo1rwdoEcjV0UNMDhfAPIw_dCf61JxW4130_assertion evidence source_evidence_curated NP1866.RATMh6lTvKB3SSo1rwdoEcjV0UNMDhfAPIw_dCf61JxW4130_provenance.
- NP1866.RATMh6lTvKB3SSo1rwdoEcjV0UNMDhfAPIw_dCf61JxW4130_assertion description "[Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1866.RATMh6lTvKB3SSo1rwdoEcjV0UNMDhfAPIw_dCf61JxW4130_provenance.