Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP776912.RAaY3r8TC8Jd6W8WZvCRStyewea-lpeC1sNPbszpBSzxU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP776912.RAaY3r8TC8Jd6W8WZvCRStyewea-lpeC1sNPbszpBSzxU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP776912.RAaY3r8TC8Jd6W8WZvCRStyewea-lpeC1sNPbszpBSzxU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP776912.RAaY3r8TC8Jd6W8WZvCRStyewea-lpeC1sNPbszpBSzxU130_provenance.
- NP776912.RAaY3r8TC8Jd6W8WZvCRStyewea-lpeC1sNPbszpBSzxU130_assertion description "[Mutations in the WFS1 gene, at 4p16.3, are associated with either optic atrophy (OA) as part of the autosomal recessive Wolfram syndrome or with autosomal dominant progressive low frequency sensorineural hearing loss (LFSNHL) without any ophthalmological abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP776912.RAaY3r8TC8Jd6W8WZvCRStyewea-lpeC1sNPbszpBSzxU130_provenance.
- NP776912.RAaY3r8TC8Jd6W8WZvCRStyewea-lpeC1sNPbszpBSzxU130_assertion evidence source_evidence_literature NP776912.RAaY3r8TC8Jd6W8WZvCRStyewea-lpeC1sNPbszpBSzxU130_provenance.
- NP776912.RAaY3r8TC8Jd6W8WZvCRStyewea-lpeC1sNPbszpBSzxU130_assertion SIO_000772 16648378 NP776912.RAaY3r8TC8Jd6W8WZvCRStyewea-lpeC1sNPbszpBSzxU130_provenance.
- NP776912.RAaY3r8TC8Jd6W8WZvCRStyewea-lpeC1sNPbszpBSzxU130_assertion wasDerivedFrom befree-20150227 NP776912.RAaY3r8TC8Jd6W8WZvCRStyewea-lpeC1sNPbszpBSzxU130_provenance.
- NP776912.RAaY3r8TC8Jd6W8WZvCRStyewea-lpeC1sNPbszpBSzxU130_assertion wasGeneratedBy ECO_0000203 NP776912.RAaY3r8TC8Jd6W8WZvCRStyewea-lpeC1sNPbszpBSzxU130_provenance.
- befree-20150227 importedOn "2015-02-27" NP776912.RAaY3r8TC8Jd6W8WZvCRStyewea-lpeC1sNPbszpBSzxU130_provenance.