Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP508645.RA0UFpxyWJmbOkSAHakwpcDDCmwChjQUmHRLdUbbYJvtU130_assertion> ?p ?o ?g. }
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- NP508645.RA0UFpxyWJmbOkSAHakwpcDDCmwChjQUmHRLdUbbYJvtU130_assertion type Assertion NP508645.RA0UFpxyWJmbOkSAHakwpcDDCmwChjQUmHRLdUbbYJvtU130_head.
- 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.