Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP843056.RAdY6W9upxJuzV2bro7HMnvhR1FnW0j8CBX3Z-EanKQP8130_assertion> ?p ?o ?g. }
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- NP843056.RAdY6W9upxJuzV2bro7HMnvhR1FnW0j8CBX3Z-EanKQP8130_assertion type Assertion NP843056.RAdY6W9upxJuzV2bro7HMnvhR1FnW0j8CBX3Z-EanKQP8130_head.
- NP843056.RAdY6W9upxJuzV2bro7HMnvhR1FnW0j8CBX3Z-EanKQP8130_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." NP843056.RAdY6W9upxJuzV2bro7HMnvhR1FnW0j8CBX3Z-EanKQP8130_provenance.
- NP843056.RAdY6W9upxJuzV2bro7HMnvhR1FnW0j8CBX3Z-EanKQP8130_assertion evidence source_evidence_literature NP843056.RAdY6W9upxJuzV2bro7HMnvhR1FnW0j8CBX3Z-EanKQP8130_provenance.
- NP843056.RAdY6W9upxJuzV2bro7HMnvhR1FnW0j8CBX3Z-EanKQP8130_assertion SIO_000772 20340139 NP843056.RAdY6W9upxJuzV2bro7HMnvhR1FnW0j8CBX3Z-EanKQP8130_provenance.
- NP843056.RAdY6W9upxJuzV2bro7HMnvhR1FnW0j8CBX3Z-EanKQP8130_assertion wasDerivedFrom befree-20150227 NP843056.RAdY6W9upxJuzV2bro7HMnvhR1FnW0j8CBX3Z-EanKQP8130_provenance.
- NP843056.RAdY6W9upxJuzV2bro7HMnvhR1FnW0j8CBX3Z-EanKQP8130_assertion wasGeneratedBy ECO_0000203 NP843056.RAdY6W9upxJuzV2bro7HMnvhR1FnW0j8CBX3Z-EanKQP8130_provenance.