Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP244126.RAhB-qffKPWoqOPOQMWHMU6j_dD4twwSwRsXUy9HAd77o130_assertion> ?p ?o ?g. }
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- NP244126.RAhB-qffKPWoqOPOQMWHMU6j_dD4twwSwRsXUy9HAd77o130_assertion type Assertion NP244126.RAhB-qffKPWoqOPOQMWHMU6j_dD4twwSwRsXUy9HAd77o130_head.
- NP244126.RAhB-qffKPWoqOPOQMWHMU6j_dD4twwSwRsXUy9HAd77o130_assertion description "[The patient's findings of coloboma and renal dysfunction suggested that she had RCS, and genetic analysis revealed a PAX2 heterozygous mutation in exon 2 (c.76dup, p.Val26Glyfsx27) without any mutations of COL4A3, COL4A4, and COL4A5, which are responsible for autosomal and X-linked Alport syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP244126.RAhB-qffKPWoqOPOQMWHMU6j_dD4twwSwRsXUy9HAd77o130_provenance.
- NP244126.RAhB-qffKPWoqOPOQMWHMU6j_dD4twwSwRsXUy9HAd77o130_assertion evidence source_evidence_literature NP244126.RAhB-qffKPWoqOPOQMWHMU6j_dD4twwSwRsXUy9HAd77o130_provenance.
- NP244126.RAhB-qffKPWoqOPOQMWHMU6j_dD4twwSwRsXUy9HAd77o130_assertion SIO_000772 22350371 NP244126.RAhB-qffKPWoqOPOQMWHMU6j_dD4twwSwRsXUy9HAd77o130_provenance.
- NP244126.RAhB-qffKPWoqOPOQMWHMU6j_dD4twwSwRsXUy9HAd77o130_assertion wasDerivedFrom befree-20140225 NP244126.RAhB-qffKPWoqOPOQMWHMU6j_dD4twwSwRsXUy9HAd77o130_provenance.
- NP244126.RAhB-qffKPWoqOPOQMWHMU6j_dD4twwSwRsXUy9HAd77o130_assertion wasGeneratedBy ECO_0000203 NP244126.RAhB-qffKPWoqOPOQMWHMU6j_dD4twwSwRsXUy9HAd77o130_provenance.