Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP547522.RAl4PrUG-rEHgSJ_ULVeq4VicNv-4EtqBDhEmmp3iLC1c130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP547522.RAl4PrUG-rEHgSJ_ULVeq4VicNv-4EtqBDhEmmp3iLC1c130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP547522.RAl4PrUG-rEHgSJ_ULVeq4VicNv-4EtqBDhEmmp3iLC1c130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP547522.RAl4PrUG-rEHgSJ_ULVeq4VicNv-4EtqBDhEmmp3iLC1c130_provenance.
- NP547522.RAl4PrUG-rEHgSJ_ULVeq4VicNv-4EtqBDhEmmp3iLC1c130_assertion description "[This is the first example of autosomal dominant optic atrophy and hearing loss associated with a WFS1 mutation, supporting the notion that mutations in WFS1 as well as in OPA1 may lead to ADOA combined with impaired hearing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP547522.RAl4PrUG-rEHgSJ_ULVeq4VicNv-4EtqBDhEmmp3iLC1c130_provenance.
- NP547522.RAl4PrUG-rEHgSJ_ULVeq4VicNv-4EtqBDhEmmp3iLC1c130_assertion evidence source_evidence_literature NP547522.RAl4PrUG-rEHgSJ_ULVeq4VicNv-4EtqBDhEmmp3iLC1c130_provenance.
- NP547522.RAl4PrUG-rEHgSJ_ULVeq4VicNv-4EtqBDhEmmp3iLC1c130_assertion SIO_000772 16648378 NP547522.RAl4PrUG-rEHgSJ_ULVeq4VicNv-4EtqBDhEmmp3iLC1c130_provenance.
- NP547522.RAl4PrUG-rEHgSJ_ULVeq4VicNv-4EtqBDhEmmp3iLC1c130_assertion wasDerivedFrom befree-2016 NP547522.RAl4PrUG-rEHgSJ_ULVeq4VicNv-4EtqBDhEmmp3iLC1c130_provenance.
- NP547522.RAl4PrUG-rEHgSJ_ULVeq4VicNv-4EtqBDhEmmp3iLC1c130_assertion wasGeneratedBy ECO_0000203 NP547522.RAl4PrUG-rEHgSJ_ULVeq4VicNv-4EtqBDhEmmp3iLC1c130_provenance.
- befree-2016 importedOn "2016-02-19" NP547522.RAl4PrUG-rEHgSJ_ULVeq4VicNv-4EtqBDhEmmp3iLC1c130_provenance.