Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP321754.RAz9qUqRI4CeT0cWOsFd9aJRQtMKb1xxMfmaDVUkGOSNg130_assertion> ?p ?o ?g. }
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- NP321754.RAz9qUqRI4CeT0cWOsFd9aJRQtMKb1xxMfmaDVUkGOSNg130_assertion type Assertion NP321754.RAz9qUqRI4CeT0cWOsFd9aJRQtMKb1xxMfmaDVUkGOSNg130_head.
- NP321754.RAz9qUqRI4CeT0cWOsFd9aJRQtMKb1xxMfmaDVUkGOSNg130_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." NP321754.RAz9qUqRI4CeT0cWOsFd9aJRQtMKb1xxMfmaDVUkGOSNg130_provenance.
- NP321754.RAz9qUqRI4CeT0cWOsFd9aJRQtMKb1xxMfmaDVUkGOSNg130_assertion evidence source_evidence_literature NP321754.RAz9qUqRI4CeT0cWOsFd9aJRQtMKb1xxMfmaDVUkGOSNg130_provenance.
- NP321754.RAz9qUqRI4CeT0cWOsFd9aJRQtMKb1xxMfmaDVUkGOSNg130_assertion SIO_000772 20340139 NP321754.RAz9qUqRI4CeT0cWOsFd9aJRQtMKb1xxMfmaDVUkGOSNg130_provenance.
- NP321754.RAz9qUqRI4CeT0cWOsFd9aJRQtMKb1xxMfmaDVUkGOSNg130_assertion wasDerivedFrom befree-20140225 NP321754.RAz9qUqRI4CeT0cWOsFd9aJRQtMKb1xxMfmaDVUkGOSNg130_provenance.
- NP321754.RAz9qUqRI4CeT0cWOsFd9aJRQtMKb1xxMfmaDVUkGOSNg130_assertion wasGeneratedBy ECO_0000203 NP321754.RAz9qUqRI4CeT0cWOsFd9aJRQtMKb1xxMfmaDVUkGOSNg130_provenance.