Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP294107.RAfdW4lL3W_xfCXcac8jZ_2lLozpbsMlmZ_dGfpaSITak#assertion> ?p ?o ?g. }
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- 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." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 16098078 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.