Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP219530.RAvhUuAXbxxMH4X2gJsIISANE9GhPE9chZXhB0AOOlZZo#assertion> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- assertion description "[There are 35 missense mutations among 68 different mutations in the TPP1 gene, which encodes tripeptidyl peptidase I (TPPI), a lysosomal aminopeptidase associated with classic late-infantile neuronal ceroid lipofuscinosis (CLN2 disease).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 20340139 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.