Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP595181.RAY-ZbqxOPQ4mG31NCC7zrL8M4lGj0t8ppjL_OnzzZbUw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP595181.RAY-ZbqxOPQ4mG31NCC7zrL8M4lGj0t8ppjL_OnzzZbUw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP595181.RAY-ZbqxOPQ4mG31NCC7zrL8M4lGj0t8ppjL_OnzzZbUw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP595181.RAY-ZbqxOPQ4mG31NCC7zrL8M4lGj0t8ppjL_OnzzZbUw130_provenance.
- NP595181.RAY-ZbqxOPQ4mG31NCC7zrL8M4lGj0t8ppjL_OnzzZbUw130_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." NP595181.RAY-ZbqxOPQ4mG31NCC7zrL8M4lGj0t8ppjL_OnzzZbUw130_provenance.
- NP595181.RAY-ZbqxOPQ4mG31NCC7zrL8M4lGj0t8ppjL_OnzzZbUw130_assertion evidence source_evidence_literature NP595181.RAY-ZbqxOPQ4mG31NCC7zrL8M4lGj0t8ppjL_OnzzZbUw130_provenance.
- NP595181.RAY-ZbqxOPQ4mG31NCC7zrL8M4lGj0t8ppjL_OnzzZbUw130_assertion SIO_000772 17314340 NP595181.RAY-ZbqxOPQ4mG31NCC7zrL8M4lGj0t8ppjL_OnzzZbUw130_provenance.
- NP595181.RAY-ZbqxOPQ4mG31NCC7zrL8M4lGj0t8ppjL_OnzzZbUw130_assertion wasDerivedFrom befree-2016 NP595181.RAY-ZbqxOPQ4mG31NCC7zrL8M4lGj0t8ppjL_OnzzZbUw130_provenance.
- NP595181.RAY-ZbqxOPQ4mG31NCC7zrL8M4lGj0t8ppjL_OnzzZbUw130_assertion wasGeneratedBy ECO_0000203 NP595181.RAY-ZbqxOPQ4mG31NCC7zrL8M4lGj0t8ppjL_OnzzZbUw130_provenance.
- befree-2016 importedOn "2016-02-19" NP595181.RAY-ZbqxOPQ4mG31NCC7zrL8M4lGj0t8ppjL_OnzzZbUw130_provenance.