Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP815413.RA4WvB-lL3h57AIs5kt8ZKxnd7ZrNHpF9KinfJ5wpSm6A130_assertion> ?p ?o ?g. }
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- NP815413.RA4WvB-lL3h57AIs5kt8ZKxnd7ZrNHpF9KinfJ5wpSm6A130_assertion type Assertion NP815413.RA4WvB-lL3h57AIs5kt8ZKxnd7ZrNHpF9KinfJ5wpSm6A130_head.
- NP815413.RA4WvB-lL3h57AIs5kt8ZKxnd7ZrNHpF9KinfJ5wpSm6A130_assertion description "[A short-segment Hirschsprung disease (HSCR) patient associated with 21 trisomy showing point nucleotidic changes in both the receptor tyrosine kinase (RET) proto-oncogene and the endothelin-B receptor (EDNRB) gene is reported.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP815413.RA4WvB-lL3h57AIs5kt8ZKxnd7ZrNHpF9KinfJ5wpSm6A130_provenance.
- NP815413.RA4WvB-lL3h57AIs5kt8ZKxnd7ZrNHpF9KinfJ5wpSm6A130_assertion evidence source_evidence_literature NP815413.RA4WvB-lL3h57AIs5kt8ZKxnd7ZrNHpF9KinfJ5wpSm6A130_provenance.
- NP815413.RA4WvB-lL3h57AIs5kt8ZKxnd7ZrNHpF9KinfJ5wpSm6A130_assertion SIO_000772 10458491 NP815413.RA4WvB-lL3h57AIs5kt8ZKxnd7ZrNHpF9KinfJ5wpSm6A130_provenance.
- NP815413.RA4WvB-lL3h57AIs5kt8ZKxnd7ZrNHpF9KinfJ5wpSm6A130_assertion wasDerivedFrom befree-20140225 NP815413.RA4WvB-lL3h57AIs5kt8ZKxnd7ZrNHpF9KinfJ5wpSm6A130_provenance.
- NP815413.RA4WvB-lL3h57AIs5kt8ZKxnd7ZrNHpF9KinfJ5wpSm6A130_assertion wasGeneratedBy ECO_0000203 NP815413.RA4WvB-lL3h57AIs5kt8ZKxnd7ZrNHpF9KinfJ5wpSm6A130_provenance.