Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP359.RAUxAyPEJ2RsSC5XO9egWjt06LnJbYcsMX4-0W7vmC5ho130_assertion> ?p ?o ?g. }
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- NP359.RAUxAyPEJ2RsSC5XO9egWjt06LnJbYcsMX4-0W7vmC5ho130_assertion type Assertion NP359.RAUxAyPEJ2RsSC5XO9egWjt06LnJbYcsMX4-0W7vmC5ho130_head.
- NP359.RAUxAyPEJ2RsSC5XO9egWjt06LnJbYcsMX4-0W7vmC5ho130_assertion wasGeneratedBy ECO_0000218 NP359.RAUxAyPEJ2RsSC5XO9egWjt06LnJbYcsMX4-0W7vmC5ho130_provenance.
- NP359.RAUxAyPEJ2RsSC5XO9egWjt06LnJbYcsMX4-0W7vmC5ho130_assertion wasDerivedFrom uniprot-20150221 NP359.RAUxAyPEJ2RsSC5XO9egWjt06LnJbYcsMX4-0W7vmC5ho130_provenance.
- NP359.RAUxAyPEJ2RsSC5XO9egWjt06LnJbYcsMX4-0W7vmC5ho130_assertion SIO_000772 24914498 NP359.RAUxAyPEJ2RsSC5XO9egWjt06LnJbYcsMX4-0W7vmC5ho130_provenance.
- NP359.RAUxAyPEJ2RsSC5XO9egWjt06LnJbYcsMX4-0W7vmC5ho130_assertion evidence source_evidence_curated NP359.RAUxAyPEJ2RsSC5XO9egWjt06LnJbYcsMX4-0W7vmC5ho130_provenance.
- NP359.RAUxAyPEJ2RsSC5XO9egWjt06LnJbYcsMX4-0W7vmC5ho130_assertion description "[Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP359.RAUxAyPEJ2RsSC5XO9egWjt06LnJbYcsMX4-0W7vmC5ho130_provenance.