Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP802681.RACJj5I7CgRINmBL6dlYOt71OCbg2g1MwtvEOVvEb68FM130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP802681.RACJj5I7CgRINmBL6dlYOt71OCbg2g1MwtvEOVvEb68FM130_assertion type Assertion NP802681.RACJj5I7CgRINmBL6dlYOt71OCbg2g1MwtvEOVvEb68FM130_head.
- NP802681.RACJj5I7CgRINmBL6dlYOt71OCbg2g1MwtvEOVvEb68FM130_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." NP802681.RACJj5I7CgRINmBL6dlYOt71OCbg2g1MwtvEOVvEb68FM130_provenance.
- NP802681.RACJj5I7CgRINmBL6dlYOt71OCbg2g1MwtvEOVvEb68FM130_assertion evidence source_evidence_literature NP802681.RACJj5I7CgRINmBL6dlYOt71OCbg2g1MwtvEOVvEb68FM130_provenance.
- NP802681.RACJj5I7CgRINmBL6dlYOt71OCbg2g1MwtvEOVvEb68FM130_assertion SIO_000772 20340139 NP802681.RACJj5I7CgRINmBL6dlYOt71OCbg2g1MwtvEOVvEb68FM130_provenance.
- NP802681.RACJj5I7CgRINmBL6dlYOt71OCbg2g1MwtvEOVvEb68FM130_assertion wasDerivedFrom befree-2016 NP802681.RACJj5I7CgRINmBL6dlYOt71OCbg2g1MwtvEOVvEb68FM130_provenance.
- NP802681.RACJj5I7CgRINmBL6dlYOt71OCbg2g1MwtvEOVvEb68FM130_assertion wasGeneratedBy ECO_0000203 NP802681.RACJj5I7CgRINmBL6dlYOt71OCbg2g1MwtvEOVvEb68FM130_provenance.