Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP530108.RACBRmjLWFqOGkNzT06w97eA8aSgIYdunZftFegyV6i4I130_assertion> ?p ?o ?g. }
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- NP530108.RACBRmjLWFqOGkNzT06w97eA8aSgIYdunZftFegyV6i4I130_assertion type Assertion NP530108.RACBRmjLWFqOGkNzT06w97eA8aSgIYdunZftFegyV6i4I130_head.
- NP530108.RACBRmjLWFqOGkNzT06w97eA8aSgIYdunZftFegyV6i4I130_assertion wasGeneratedBy ECO_0000203 NP530108.RACBRmjLWFqOGkNzT06w97eA8aSgIYdunZftFegyV6i4I130_provenance.
- NP530108.RACBRmjLWFqOGkNzT06w97eA8aSgIYdunZftFegyV6i4I130_assertion wasDerivedFrom befree-20150227 NP530108.RACBRmjLWFqOGkNzT06w97eA8aSgIYdunZftFegyV6i4I130_provenance.
- NP530108.RACBRmjLWFqOGkNzT06w97eA8aSgIYdunZftFegyV6i4I130_assertion SIO_000772 22344793 NP530108.RACBRmjLWFqOGkNzT06w97eA8aSgIYdunZftFegyV6i4I130_provenance.
- NP530108.RACBRmjLWFqOGkNzT06w97eA8aSgIYdunZftFegyV6i4I130_assertion evidence source_evidence_literature NP530108.RACBRmjLWFqOGkNzT06w97eA8aSgIYdunZftFegyV6i4I130_provenance.
- NP530108.RACBRmjLWFqOGkNzT06w97eA8aSgIYdunZftFegyV6i4I130_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." NP530108.RACBRmjLWFqOGkNzT06w97eA8aSgIYdunZftFegyV6i4I130_provenance.