Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP219538.RAHI5CL0DpVI0eekul36qkkbziL6oQr_o4RtIKCpzUWOo130_assertion> ?p ?o ?g. }
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- NP219538.RAHI5CL0DpVI0eekul36qkkbziL6oQr_o4RtIKCpzUWOo130_assertion type Assertion NP219538.RAHI5CL0DpVI0eekul36qkkbziL6oQr_o4RtIKCpzUWOo130_head.
- NP219538.RAHI5CL0DpVI0eekul36qkkbziL6oQr_o4RtIKCpzUWOo130_assertion description "[Mutations in OFD1 also cause X-linked Joubert syndrome (JBTS10) and Simpson-Golabi-Behmel syndrome type 2 (SGBS2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP219538.RAHI5CL0DpVI0eekul36qkkbziL6oQr_o4RtIKCpzUWOo130_provenance.
- NP219538.RAHI5CL0DpVI0eekul36qkkbziL6oQr_o4RtIKCpzUWOo130_assertion evidence source_evidence_literature NP219538.RAHI5CL0DpVI0eekul36qkkbziL6oQr_o4RtIKCpzUWOo130_provenance.
- NP219538.RAHI5CL0DpVI0eekul36qkkbziL6oQr_o4RtIKCpzUWOo130_assertion SIO_000772 23033313 NP219538.RAHI5CL0DpVI0eekul36qkkbziL6oQr_o4RtIKCpzUWOo130_provenance.
- NP219538.RAHI5CL0DpVI0eekul36qkkbziL6oQr_o4RtIKCpzUWOo130_assertion wasDerivedFrom befree-20140225 NP219538.RAHI5CL0DpVI0eekul36qkkbziL6oQr_o4RtIKCpzUWOo130_provenance.
- NP219538.RAHI5CL0DpVI0eekul36qkkbziL6oQr_o4RtIKCpzUWOo130_assertion wasGeneratedBy ECO_0000203 NP219538.RAHI5CL0DpVI0eekul36qkkbziL6oQr_o4RtIKCpzUWOo130_provenance.