Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1144.RAKQu4ueQNGpvPy8UyDfuI2WS9ipuHlMN4u9aT-FqwquU130_assertion> ?p ?o ?g. }
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- NP1144.RAKQu4ueQNGpvPy8UyDfuI2WS9ipuHlMN4u9aT-FqwquU130_assertion type Assertion NP1144.RAKQu4ueQNGpvPy8UyDfuI2WS9ipuHlMN4u9aT-FqwquU130_head.
- NP1144.RAKQu4ueQNGpvPy8UyDfuI2WS9ipuHlMN4u9aT-FqwquU130_assertion wasGeneratedBy ECO_0000218 NP1144.RAKQu4ueQNGpvPy8UyDfuI2WS9ipuHlMN4u9aT-FqwquU130_provenance.
- NP1144.RAKQu4ueQNGpvPy8UyDfuI2WS9ipuHlMN4u9aT-FqwquU130_assertion wasDerivedFrom uniprot-2016 NP1144.RAKQu4ueQNGpvPy8UyDfuI2WS9ipuHlMN4u9aT-FqwquU130_provenance.
- NP1144.RAKQu4ueQNGpvPy8UyDfuI2WS9ipuHlMN4u9aT-FqwquU130_assertion SIO_000772 11101850 NP1144.RAKQu4ueQNGpvPy8UyDfuI2WS9ipuHlMN4u9aT-FqwquU130_provenance.
- NP1144.RAKQu4ueQNGpvPy8UyDfuI2WS9ipuHlMN4u9aT-FqwquU130_assertion evidence source_evidence_curated NP1144.RAKQu4ueQNGpvPy8UyDfuI2WS9ipuHlMN4u9aT-FqwquU130_provenance.
- NP1144.RAKQu4ueQNGpvPy8UyDfuI2WS9ipuHlMN4u9aT-FqwquU130_assertion description "[Here we describe mutations, including missense and splicing mutations, of the gene encoding perlecan (HSPG2) in three SJS1 families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1144.RAKQu4ueQNGpvPy8UyDfuI2WS9ipuHlMN4u9aT-FqwquU130_provenance.