Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP481734.RA60ulAFSGhnOgDhXMbhSHzGKouPH7QVoPq1nItMU77EQ#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000218 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion SIO_000772 9694901 provenance.
- assertion evidence source_evidence_curated provenance.
- assertion description "[We have previously reported two sisters with chronic Sandhoff disease who were heterozygous for the common HEXB deletion allele.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.