Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP546781.RAhwuYwlVNuDu7KUFlQApyR8RyblggCqyTj1uXEbjiFG8130_assertion> ?p ?o ?g. }
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- NP546781.RAhwuYwlVNuDu7KUFlQApyR8RyblggCqyTj1uXEbjiFG8130_assertion type Assertion NP546781.RAhwuYwlVNuDu7KUFlQApyR8RyblggCqyTj1uXEbjiFG8130_head.
- NP546781.RAhwuYwlVNuDu7KUFlQApyR8RyblggCqyTj1uXEbjiFG8130_assertion description "[Inter- and intrafamilial variability is a well-known feature of the L1CAM spectrum, and several patients have a combination of L1CAM mutations and Hirschsprung's disease (HSCR).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP546781.RAhwuYwlVNuDu7KUFlQApyR8RyblggCqyTj1uXEbjiFG8130_provenance.
- NP546781.RAhwuYwlVNuDu7KUFlQApyR8RyblggCqyTj1uXEbjiFG8130_assertion evidence source_evidence_literature NP546781.RAhwuYwlVNuDu7KUFlQApyR8RyblggCqyTj1uXEbjiFG8130_provenance.
- NP546781.RAhwuYwlVNuDu7KUFlQApyR8RyblggCqyTj1uXEbjiFG8130_assertion SIO_000772 16650080 NP546781.RAhwuYwlVNuDu7KUFlQApyR8RyblggCqyTj1uXEbjiFG8130_provenance.
- NP546781.RAhwuYwlVNuDu7KUFlQApyR8RyblggCqyTj1uXEbjiFG8130_assertion wasDerivedFrom befree-20140225 NP546781.RAhwuYwlVNuDu7KUFlQApyR8RyblggCqyTj1uXEbjiFG8130_provenance.
- NP546781.RAhwuYwlVNuDu7KUFlQApyR8RyblggCqyTj1uXEbjiFG8130_assertion wasGeneratedBy ECO_0000203 NP546781.RAhwuYwlVNuDu7KUFlQApyR8RyblggCqyTj1uXEbjiFG8130_provenance.