Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP481679.RA0pnz2gIThd-iXd66mhH0X-p5Xcq12Tfk9exDdlKx488#assertion> ?p ?o ?g. }
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- assertion description "[Three siblings in their sixth and seventh decade with hexosaminidase A and B deficiency (adult form of GM2-gangliosidosis, variant O) developed early and severe sensory loss in addition to chronic motor neuron disease and cerebellar ataxia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 8530938 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.