Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP539107.RAEXwcjBUJH3jQNSPgVSvCWALpokZeQHuq-aMqHpJ-DWs130_assertion> ?p ?o ?g. }
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- NP539107.RAEXwcjBUJH3jQNSPgVSvCWALpokZeQHuq-aMqHpJ-DWs130_assertion type Assertion NP539107.RAEXwcjBUJH3jQNSPgVSvCWALpokZeQHuq-aMqHpJ-DWs130_head.
- NP539107.RAEXwcjBUJH3jQNSPgVSvCWALpokZeQHuq-aMqHpJ-DWs130_assertion wasGeneratedBy ECO_0000203 NP539107.RAEXwcjBUJH3jQNSPgVSvCWALpokZeQHuq-aMqHpJ-DWs130_provenance.
- NP539107.RAEXwcjBUJH3jQNSPgVSvCWALpokZeQHuq-aMqHpJ-DWs130_assertion wasDerivedFrom befree-20140225 NP539107.RAEXwcjBUJH3jQNSPgVSvCWALpokZeQHuq-aMqHpJ-DWs130_provenance.
- NP539107.RAEXwcjBUJH3jQNSPgVSvCWALpokZeQHuq-aMqHpJ-DWs130_assertion SIO_000772 22344793 NP539107.RAEXwcjBUJH3jQNSPgVSvCWALpokZeQHuq-aMqHpJ-DWs130_provenance.
- NP539107.RAEXwcjBUJH3jQNSPgVSvCWALpokZeQHuq-aMqHpJ-DWs130_assertion evidence source_evidence_literature NP539107.RAEXwcjBUJH3jQNSPgVSvCWALpokZeQHuq-aMqHpJ-DWs130_provenance.
- NP539107.RAEXwcjBUJH3jQNSPgVSvCWALpokZeQHuq-aMqHpJ-DWs130_assertion description "[While it is obvious that additional studies are necessary to further delineate the association between XLH and HSCR in the presence of L1CAM mutations, the documentation of this new patient reinforces the role of this gene acting either in a direct or indirect way in the pathogenesis of Hirschsprung disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP539107.RAEXwcjBUJH3jQNSPgVSvCWALpokZeQHuq-aMqHpJ-DWs130_provenance.