Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP802682.RAzfu6D3rexgeUd5olUCpbgf0rJW-jiA-ls2zCboRmZMs130_assertion> ?p ?o ?g. }
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- NP802682.RAzfu6D3rexgeUd5olUCpbgf0rJW-jiA-ls2zCboRmZMs130_assertion type Assertion NP802682.RAzfu6D3rexgeUd5olUCpbgf0rJW-jiA-ls2zCboRmZMs130_head.
- NP802682.RAzfu6D3rexgeUd5olUCpbgf0rJW-jiA-ls2zCboRmZMs130_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." NP802682.RAzfu6D3rexgeUd5olUCpbgf0rJW-jiA-ls2zCboRmZMs130_provenance.
- NP802682.RAzfu6D3rexgeUd5olUCpbgf0rJW-jiA-ls2zCboRmZMs130_assertion evidence source_evidence_literature NP802682.RAzfu6D3rexgeUd5olUCpbgf0rJW-jiA-ls2zCboRmZMs130_provenance.
- NP802682.RAzfu6D3rexgeUd5olUCpbgf0rJW-jiA-ls2zCboRmZMs130_assertion SIO_000772 20340139 NP802682.RAzfu6D3rexgeUd5olUCpbgf0rJW-jiA-ls2zCboRmZMs130_provenance.
- NP802682.RAzfu6D3rexgeUd5olUCpbgf0rJW-jiA-ls2zCboRmZMs130_assertion wasDerivedFrom befree-2016 NP802682.RAzfu6D3rexgeUd5olUCpbgf0rJW-jiA-ls2zCboRmZMs130_provenance.
- NP802682.RAzfu6D3rexgeUd5olUCpbgf0rJW-jiA-ls2zCboRmZMs130_assertion wasGeneratedBy ECO_0000203 NP802682.RAzfu6D3rexgeUd5olUCpbgf0rJW-jiA-ls2zCboRmZMs130_provenance.