Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP213455.RAs7OfdoM6AMzGJAzTi-nk6M-oPMOuVWhzuRiT2qd64mE130_assertion> ?p ?o ?g. }
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- NP213455.RAs7OfdoM6AMzGJAzTi-nk6M-oPMOuVWhzuRiT2qd64mE130_assertion type Assertion NP213455.RAs7OfdoM6AMzGJAzTi-nk6M-oPMOuVWhzuRiT2qd64mE130_head.
- NP213455.RAs7OfdoM6AMzGJAzTi-nk6M-oPMOuVWhzuRiT2qd64mE130_assertion wasGeneratedBy ECO_0000203 NP213455.RAs7OfdoM6AMzGJAzTi-nk6M-oPMOuVWhzuRiT2qd64mE130_provenance.
- NP213455.RAs7OfdoM6AMzGJAzTi-nk6M-oPMOuVWhzuRiT2qd64mE130_assertion wasDerivedFrom befree-20140225 NP213455.RAs7OfdoM6AMzGJAzTi-nk6M-oPMOuVWhzuRiT2qd64mE130_provenance.
- NP213455.RAs7OfdoM6AMzGJAzTi-nk6M-oPMOuVWhzuRiT2qd64mE130_assertion SIO_000772 17552945 NP213455.RAs7OfdoM6AMzGJAzTi-nk6M-oPMOuVWhzuRiT2qd64mE130_provenance.
- NP213455.RAs7OfdoM6AMzGJAzTi-nk6M-oPMOuVWhzuRiT2qd64mE130_assertion evidence source_evidence_literature NP213455.RAs7OfdoM6AMzGJAzTi-nk6M-oPMOuVWhzuRiT2qd64mE130_provenance.
- NP213455.RAs7OfdoM6AMzGJAzTi-nk6M-oPMOuVWhzuRiT2qd64mE130_assertion description "[Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development which results from loss-of-function mutations in the gene TCOF1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP213455.RAs7OfdoM6AMzGJAzTi-nk6M-oPMOuVWhzuRiT2qd64mE130_provenance.