Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP1015.RAXn7kgWl3TGKPF33SvAN9buW2Yp7LFS2TF29bwVifMG4130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1015.RAXn7kgWl3TGKPF33SvAN9buW2Yp7LFS2TF29bwVifMG4130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1015.RAXn7kgWl3TGKPF33SvAN9buW2Yp7LFS2TF29bwVifMG4130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1015.RAXn7kgWl3TGKPF33SvAN9buW2Yp7LFS2TF29bwVifMG4130_provenance.
- NP1015.RAXn7kgWl3TGKPF33SvAN9buW2Yp7LFS2TF29bwVifMG4130_assertion wasGeneratedBy ECO_0000218 NP1015.RAXn7kgWl3TGKPF33SvAN9buW2Yp7LFS2TF29bwVifMG4130_provenance.
- NP1015.RAXn7kgWl3TGKPF33SvAN9buW2Yp7LFS2TF29bwVifMG4130_assertion wasDerivedFrom uniprot-20130724 NP1015.RAXn7kgWl3TGKPF33SvAN9buW2Yp7LFS2TF29bwVifMG4130_provenance.
- NP1015.RAXn7kgWl3TGKPF33SvAN9buW2Yp7LFS2TF29bwVifMG4130_assertion SIO_000772 16679490 NP1015.RAXn7kgWl3TGKPF33SvAN9buW2Yp7LFS2TF29bwVifMG4130_provenance.
- NP1015.RAXn7kgWl3TGKPF33SvAN9buW2Yp7LFS2TF29bwVifMG4130_assertion evidence source_evidence_curated NP1015.RAXn7kgWl3TGKPF33SvAN9buW2Yp7LFS2TF29bwVifMG4130_provenance.
- NP1015.RAXn7kgWl3TGKPF33SvAN9buW2Yp7LFS2TF29bwVifMG4130_assertion description "[Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1015.RAXn7kgWl3TGKPF33SvAN9buW2Yp7LFS2TF29bwVifMG4130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP1015.RAXn7kgWl3TGKPF33SvAN9buW2Yp7LFS2TF29bwVifMG4130_provenance.