Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP989681.RAaF2JtrPZbySfkH9pjLdESv-Y2IYML1McTRlT0e18YIo130_assertion> ?p ?o ?g. }
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- NP989681.RAaF2JtrPZbySfkH9pjLdESv-Y2IYML1McTRlT0e18YIo130_assertion type Assertion NP989681.RAaF2JtrPZbySfkH9pjLdESv-Y2IYML1McTRlT0e18YIo130_head.
- NP989681.RAaF2JtrPZbySfkH9pjLdESv-Y2IYML1McTRlT0e18YIo130_assertion description "[Loss-of-function mutations in the gene (CSTB) encoding human cystatin B, a widely expressed cysteine protease inhibitor, are responsible for a severe neurological disorder known as Unverricht-Lundborg disease (EPM1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP989681.RAaF2JtrPZbySfkH9pjLdESv-Y2IYML1McTRlT0e18YIo130_provenance.
- NP989681.RAaF2JtrPZbySfkH9pjLdESv-Y2IYML1McTRlT0e18YIo130_assertion evidence source_evidence_literature NP989681.RAaF2JtrPZbySfkH9pjLdESv-Y2IYML1McTRlT0e18YIo130_provenance.
- NP989681.RAaF2JtrPZbySfkH9pjLdESv-Y2IYML1McTRlT0e18YIo130_assertion SIO_000772 9806543 NP989681.RAaF2JtrPZbySfkH9pjLdESv-Y2IYML1McTRlT0e18YIo130_provenance.
- NP989681.RAaF2JtrPZbySfkH9pjLdESv-Y2IYML1McTRlT0e18YIo130_assertion wasDerivedFrom befree-20150227 NP989681.RAaF2JtrPZbySfkH9pjLdESv-Y2IYML1McTRlT0e18YIo130_provenance.
- NP989681.RAaF2JtrPZbySfkH9pjLdESv-Y2IYML1McTRlT0e18YIo130_assertion wasGeneratedBy ECO_0000203 NP989681.RAaF2JtrPZbySfkH9pjLdESv-Y2IYML1McTRlT0e18YIo130_provenance.