Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP4678.RAXyafpnjlmFUohgV0PSapdlb2CXc7aUs9-2N_1Pe4q5s130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4678.RAXyafpnjlmFUohgV0PSapdlb2CXc7aUs9-2N_1Pe4q5s130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4678.RAXyafpnjlmFUohgV0PSapdlb2CXc7aUs9-2N_1Pe4q5s130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4678.RAXyafpnjlmFUohgV0PSapdlb2CXc7aUs9-2N_1Pe4q5s130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP4678.RAXyafpnjlmFUohgV0PSapdlb2CXc7aUs9-2N_1Pe4q5s130_provenance.
- NP4678.RAXyafpnjlmFUohgV0PSapdlb2CXc7aUs9-2N_1Pe4q5s130_assertion wasGeneratedBy ECO_0000218 NP4678.RAXyafpnjlmFUohgV0PSapdlb2CXc7aUs9-2N_1Pe4q5s130_provenance.
- NP4678.RAXyafpnjlmFUohgV0PSapdlb2CXc7aUs9-2N_1Pe4q5s130_assertion wasDerivedFrom uniprot-20150221 NP4678.RAXyafpnjlmFUohgV0PSapdlb2CXc7aUs9-2N_1Pe4q5s130_provenance.
- NP4678.RAXyafpnjlmFUohgV0PSapdlb2CXc7aUs9-2N_1Pe4q5s130_assertion SIO_000772 16385458 NP4678.RAXyafpnjlmFUohgV0PSapdlb2CXc7aUs9-2N_1Pe4q5s130_provenance.
- NP4678.RAXyafpnjlmFUohgV0PSapdlb2CXc7aUs9-2N_1Pe4q5s130_assertion evidence source_evidence_curated NP4678.RAXyafpnjlmFUohgV0PSapdlb2CXc7aUs9-2N_1Pe4q5s130_provenance.
- NP4678.RAXyafpnjlmFUohgV0PSapdlb2CXc7aUs9-2N_1Pe4q5s130_assertion description "[Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4678.RAXyafpnjlmFUohgV0PSapdlb2CXc7aUs9-2N_1Pe4q5s130_provenance.