Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP114425.RAJ3O6MiFpZdzFeqwaq0JW8swefdzAywKZrQT-xFHR1DE#assertion> ?p ?o ?g. }
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- assertion description "[BCS1L mutations cause disease phenotypes ranging from highly restricted pili torti and sensorineural hearing loss (the Bj?rnstad syndrome) to profound multisystem organ failure (complex III deficiency and the GRACILE syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 17314340 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.