Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP875967.RAUkSWRtzwoGsndbkft8EF9DF_aWRnF2J7EYIqHs5zjd4130_assertion> ?p ?o ?g. }
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- NP875967.RAUkSWRtzwoGsndbkft8EF9DF_aWRnF2J7EYIqHs5zjd4130_assertion type Assertion NP875967.RAUkSWRtzwoGsndbkft8EF9DF_aWRnF2J7EYIqHs5zjd4130_head.
- NP875967.RAUkSWRtzwoGsndbkft8EF9DF_aWRnF2J7EYIqHs5zjd4130_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." NP875967.RAUkSWRtzwoGsndbkft8EF9DF_aWRnF2J7EYIqHs5zjd4130_provenance.
- NP875967.RAUkSWRtzwoGsndbkft8EF9DF_aWRnF2J7EYIqHs5zjd4130_assertion evidence source_evidence_literature NP875967.RAUkSWRtzwoGsndbkft8EF9DF_aWRnF2J7EYIqHs5zjd4130_provenance.
- NP875967.RAUkSWRtzwoGsndbkft8EF9DF_aWRnF2J7EYIqHs5zjd4130_assertion SIO_000772 20340139 NP875967.RAUkSWRtzwoGsndbkft8EF9DF_aWRnF2J7EYIqHs5zjd4130_provenance.
- NP875967.RAUkSWRtzwoGsndbkft8EF9DF_aWRnF2J7EYIqHs5zjd4130_assertion wasDerivedFrom befree-20140225 NP875967.RAUkSWRtzwoGsndbkft8EF9DF_aWRnF2J7EYIqHs5zjd4130_provenance.
- NP875967.RAUkSWRtzwoGsndbkft8EF9DF_aWRnF2J7EYIqHs5zjd4130_assertion wasGeneratedBy ECO_0000203 NP875967.RAUkSWRtzwoGsndbkft8EF9DF_aWRnF2J7EYIqHs5zjd4130_provenance.