Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP694059.RAREu_IbsbfMY1WBE2sowvX72Y9x1_QF-1h7ecSTxILq8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP694059.RAREu_IbsbfMY1WBE2sowvX72Y9x1_QF-1h7ecSTxILq8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP694059.RAREu_IbsbfMY1WBE2sowvX72Y9x1_QF-1h7ecSTxILq8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP694059.RAREu_IbsbfMY1WBE2sowvX72Y9x1_QF-1h7ecSTxILq8130_provenance.
- NP694059.RAREu_IbsbfMY1WBE2sowvX72Y9x1_QF-1h7ecSTxILq8130_assertion description "[These findings strongly suggested that the I122V mutation in ACTG1 caused autosomal dominant non-syndromic hearing impairment in a Chinese family and expanded the spectrum of ACTG1 mutations causing hearing loss.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP694059.RAREu_IbsbfMY1WBE2sowvX72Y9x1_QF-1h7ecSTxILq8130_provenance.
- NP694059.RAREu_IbsbfMY1WBE2sowvX72Y9x1_QF-1h7ecSTxILq8130_assertion evidence source_evidence_literature NP694059.RAREu_IbsbfMY1WBE2sowvX72Y9x1_QF-1h7ecSTxILq8130_provenance.
- NP694059.RAREu_IbsbfMY1WBE2sowvX72Y9x1_QF-1h7ecSTxILq8130_assertion SIO_000772 18804074 NP694059.RAREu_IbsbfMY1WBE2sowvX72Y9x1_QF-1h7ecSTxILq8130_provenance.
- NP694059.RAREu_IbsbfMY1WBE2sowvX72Y9x1_QF-1h7ecSTxILq8130_assertion wasDerivedFrom befree-2016 NP694059.RAREu_IbsbfMY1WBE2sowvX72Y9x1_QF-1h7ecSTxILq8130_provenance.
- NP694059.RAREu_IbsbfMY1WBE2sowvX72Y9x1_QF-1h7ecSTxILq8130_assertion wasGeneratedBy ECO_0000203 NP694059.RAREu_IbsbfMY1WBE2sowvX72Y9x1_QF-1h7ecSTxILq8130_provenance.
- befree-2016 importedOn "2016-02-19" NP694059.RAREu_IbsbfMY1WBE2sowvX72Y9x1_QF-1h7ecSTxILq8130_provenance.