Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1344484.RA2SJOLUxktH0MpGdlFjSLJsrgO5lUmt08jN9WEfG3QoY130_assertion> ?p ?o ?g. }
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- NP1344484.RA2SJOLUxktH0MpGdlFjSLJsrgO5lUmt08jN9WEfG3QoY130_assertion type Assertion NP1344484.RA2SJOLUxktH0MpGdlFjSLJsrgO5lUmt08jN9WEfG3QoY130_head.
- NP1344484.RA2SJOLUxktH0MpGdlFjSLJsrgO5lUmt08jN9WEfG3QoY130_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." NP1344484.RA2SJOLUxktH0MpGdlFjSLJsrgO5lUmt08jN9WEfG3QoY130_provenance.
- NP1344484.RA2SJOLUxktH0MpGdlFjSLJsrgO5lUmt08jN9WEfG3QoY130_assertion evidence source_evidence_literature NP1344484.RA2SJOLUxktH0MpGdlFjSLJsrgO5lUmt08jN9WEfG3QoY130_provenance.
- NP1344484.RA2SJOLUxktH0MpGdlFjSLJsrgO5lUmt08jN9WEfG3QoY130_assertion SIO_000772 8530938 NP1344484.RA2SJOLUxktH0MpGdlFjSLJsrgO5lUmt08jN9WEfG3QoY130_provenance.
- NP1344484.RA2SJOLUxktH0MpGdlFjSLJsrgO5lUmt08jN9WEfG3QoY130_assertion wasDerivedFrom befree-2016 NP1344484.RA2SJOLUxktH0MpGdlFjSLJsrgO5lUmt08jN9WEfG3QoY130_provenance.
- NP1344484.RA2SJOLUxktH0MpGdlFjSLJsrgO5lUmt08jN9WEfG3QoY130_assertion wasGeneratedBy ECO_0000203 NP1344484.RA2SJOLUxktH0MpGdlFjSLJsrgO5lUmt08jN9WEfG3QoY130_provenance.