Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP842692.RAPkSICtmbm4Rq95nx4tZ5IboXVj3Bkyl4yyq9BEHFWPE130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP842692.RAPkSICtmbm4Rq95nx4tZ5IboXVj3Bkyl4yyq9BEHFWPE130_assertion type Assertion NP842692.RAPkSICtmbm4Rq95nx4tZ5IboXVj3Bkyl4yyq9BEHFWPE130_head.
- NP842692.RAPkSICtmbm4Rq95nx4tZ5IboXVj3Bkyl4yyq9BEHFWPE130_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." NP842692.RAPkSICtmbm4Rq95nx4tZ5IboXVj3Bkyl4yyq9BEHFWPE130_provenance.
- NP842692.RAPkSICtmbm4Rq95nx4tZ5IboXVj3Bkyl4yyq9BEHFWPE130_assertion evidence source_evidence_literature NP842692.RAPkSICtmbm4Rq95nx4tZ5IboXVj3Bkyl4yyq9BEHFWPE130_provenance.
- NP842692.RAPkSICtmbm4Rq95nx4tZ5IboXVj3Bkyl4yyq9BEHFWPE130_assertion SIO_000772 20340139 NP842692.RAPkSICtmbm4Rq95nx4tZ5IboXVj3Bkyl4yyq9BEHFWPE130_provenance.
- NP842692.RAPkSICtmbm4Rq95nx4tZ5IboXVj3Bkyl4yyq9BEHFWPE130_assertion wasDerivedFrom befree-20140225 NP842692.RAPkSICtmbm4Rq95nx4tZ5IboXVj3Bkyl4yyq9BEHFWPE130_provenance.
- NP842692.RAPkSICtmbm4Rq95nx4tZ5IboXVj3Bkyl4yyq9BEHFWPE130_assertion wasGeneratedBy ECO_0000203 NP842692.RAPkSICtmbm4Rq95nx4tZ5IboXVj3Bkyl4yyq9BEHFWPE130_provenance.