Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP508645.RA0UFpxyWJmbOkSAHakwpcDDCmwChjQUmHRLdUbbYJvtU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP508645.RA0UFpxyWJmbOkSAHakwpcDDCmwChjQUmHRLdUbbYJvtU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP508645.RA0UFpxyWJmbOkSAHakwpcDDCmwChjQUmHRLdUbbYJvtU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP508645.RA0UFpxyWJmbOkSAHakwpcDDCmwChjQUmHRLdUbbYJvtU130_provenance.
- NP508645.RA0UFpxyWJmbOkSAHakwpcDDCmwChjQUmHRLdUbbYJvtU130_assertion description "[A review of all published mutations suggests that mutation in the C-terminal coiled coil region or truncation of the tailpiece is associated with haematological-only phenotype, while mutation of the head ATPase domain frequently is associated with nephropathy and/or hearing loss.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP508645.RA0UFpxyWJmbOkSAHakwpcDDCmwChjQUmHRLdUbbYJvtU130_provenance.
- NP508645.RA0UFpxyWJmbOkSAHakwpcDDCmwChjQUmHRLdUbbYJvtU130_assertion evidence source_evidence_literature NP508645.RA0UFpxyWJmbOkSAHakwpcDDCmwChjQUmHRLdUbbYJvtU130_provenance.
- NP508645.RA0UFpxyWJmbOkSAHakwpcDDCmwChjQUmHRLdUbbYJvtU130_assertion SIO_000772 16098078 NP508645.RA0UFpxyWJmbOkSAHakwpcDDCmwChjQUmHRLdUbbYJvtU130_provenance.
- NP508645.RA0UFpxyWJmbOkSAHakwpcDDCmwChjQUmHRLdUbbYJvtU130_assertion wasDerivedFrom befree-2016 NP508645.RA0UFpxyWJmbOkSAHakwpcDDCmwChjQUmHRLdUbbYJvtU130_provenance.
- NP508645.RA0UFpxyWJmbOkSAHakwpcDDCmwChjQUmHRLdUbbYJvtU130_assertion wasGeneratedBy ECO_0000203 NP508645.RA0UFpxyWJmbOkSAHakwpcDDCmwChjQUmHRLdUbbYJvtU130_provenance.
- befree-2016 importedOn "2016-02-19" NP508645.RA0UFpxyWJmbOkSAHakwpcDDCmwChjQUmHRLdUbbYJvtU130_provenance.