Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP4390.RAo1anr2EqN3rM1dtSTGvEfT-LMkg9n567V9Ca6ffVQSw130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_curated type ECO_0000205 NP4390.RAo1anr2EqN3rM1dtSTGvEfT-LMkg9n567V9Ca6ffVQSw130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4390.RAo1anr2EqN3rM1dtSTGvEfT-LMkg9n567V9Ca6ffVQSw130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4390.RAo1anr2EqN3rM1dtSTGvEfT-LMkg9n567V9Ca6ffVQSw130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP4390.RAo1anr2EqN3rM1dtSTGvEfT-LMkg9n567V9Ca6ffVQSw130_provenance.
- NP4390.RAo1anr2EqN3rM1dtSTGvEfT-LMkg9n567V9Ca6ffVQSw130_assertion wasGeneratedBy ECO_0000218 NP4390.RAo1anr2EqN3rM1dtSTGvEfT-LMkg9n567V9Ca6ffVQSw130_provenance.
- NP4390.RAo1anr2EqN3rM1dtSTGvEfT-LMkg9n567V9Ca6ffVQSw130_assertion wasDerivedFrom uniprot-2016 NP4390.RAo1anr2EqN3rM1dtSTGvEfT-LMkg9n567V9Ca6ffVQSw130_provenance.
- NP4390.RAo1anr2EqN3rM1dtSTGvEfT-LMkg9n567V9Ca6ffVQSw130_assertion SIO_000772 16459341 NP4390.RAo1anr2EqN3rM1dtSTGvEfT-LMkg9n567V9Ca6ffVQSw130_provenance.
- NP4390.RAo1anr2EqN3rM1dtSTGvEfT-LMkg9n567V9Ca6ffVQSw130_assertion evidence source_evidence_curated NP4390.RAo1anr2EqN3rM1dtSTGvEfT-LMkg9n567V9Ca6ffVQSw130_provenance.
- NP4390.RAo1anr2EqN3rM1dtSTGvEfT-LMkg9n567V9Ca6ffVQSw130_assertion description "[DNA sequence analysis of TMHS revealed a homozygous frameshift mutation (246delC) and a missense mutation (Y127C) in affected individuals of two families segregating non-syndromic deafness, one of which showed significant evidence of linkage to markers in the DFNB67 interval.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4390.RAo1anr2EqN3rM1dtSTGvEfT-LMkg9n567V9Ca6ffVQSw130_provenance.