Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP6599.RAadjMrBoJ8Hn3K5Rq1UBxgB8ZObbk_FZqJhCSE9ej3Hw130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6599.RAadjMrBoJ8Hn3K5Rq1UBxgB8ZObbk_FZqJhCSE9ej3Hw130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6599.RAadjMrBoJ8Hn3K5Rq1UBxgB8ZObbk_FZqJhCSE9ej3Hw130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6599.RAadjMrBoJ8Hn3K5Rq1UBxgB8ZObbk_FZqJhCSE9ej3Hw130_provenance.
- NP6599.RAadjMrBoJ8Hn3K5Rq1UBxgB8ZObbk_FZqJhCSE9ej3Hw130_assertion description "[A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6599.RAadjMrBoJ8Hn3K5Rq1UBxgB8ZObbk_FZqJhCSE9ej3Hw130_provenance.
- NP6599.RAadjMrBoJ8Hn3K5Rq1UBxgB8ZObbk_FZqJhCSE9ej3Hw130_assertion evidence source_evidence_curated NP6599.RAadjMrBoJ8Hn3K5Rq1UBxgB8ZObbk_FZqJhCSE9ej3Hw130_provenance.
- NP6599.RAadjMrBoJ8Hn3K5Rq1UBxgB8ZObbk_FZqJhCSE9ej3Hw130_assertion SIO_000772 21480433 NP6599.RAadjMrBoJ8Hn3K5Rq1UBxgB8ZObbk_FZqJhCSE9ej3Hw130_provenance.
- NP6599.RAadjMrBoJ8Hn3K5Rq1UBxgB8ZObbk_FZqJhCSE9ej3Hw130_assertion wasDerivedFrom uniprot-2016 NP6599.RAadjMrBoJ8Hn3K5Rq1UBxgB8ZObbk_FZqJhCSE9ej3Hw130_provenance.
- NP6599.RAadjMrBoJ8Hn3K5Rq1UBxgB8ZObbk_FZqJhCSE9ej3Hw130_assertion wasGeneratedBy ECO_0000218 NP6599.RAadjMrBoJ8Hn3K5Rq1UBxgB8ZObbk_FZqJhCSE9ej3Hw130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP6599.RAadjMrBoJ8Hn3K5Rq1UBxgB8ZObbk_FZqJhCSE9ej3Hw130_provenance.