Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP4443.RAahAZegbW_39fAQXpBbkJNSXqw-ySwnPq2MBN-nsXVDs130_assertion> ?p ?o ?g. }
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- NP4443.RAahAZegbW_39fAQXpBbkJNSXqw-ySwnPq2MBN-nsXVDs130_assertion type Assertion NP4443.RAahAZegbW_39fAQXpBbkJNSXqw-ySwnPq2MBN-nsXVDs130_head.
- NP4443.RAahAZegbW_39fAQXpBbkJNSXqw-ySwnPq2MBN-nsXVDs130_assertion wasGeneratedBy ECO_0000218 NP4443.RAahAZegbW_39fAQXpBbkJNSXqw-ySwnPq2MBN-nsXVDs130_provenance.
- NP4443.RAahAZegbW_39fAQXpBbkJNSXqw-ySwnPq2MBN-nsXVDs130_assertion wasDerivedFrom uniprot-20130724 NP4443.RAahAZegbW_39fAQXpBbkJNSXqw-ySwnPq2MBN-nsXVDs130_provenance.
- NP4443.RAahAZegbW_39fAQXpBbkJNSXqw-ySwnPq2MBN-nsXVDs130_assertion SIO_000772 11829139 NP4443.RAahAZegbW_39fAQXpBbkJNSXqw-ySwnPq2MBN-nsXVDs130_provenance.
- NP4443.RAahAZegbW_39fAQXpBbkJNSXqw-ySwnPq2MBN-nsXVDs130_assertion evidence source_evidence_curated NP4443.RAahAZegbW_39fAQXpBbkJNSXqw-ySwnPq2MBN-nsXVDs130_provenance.
- NP4443.RAahAZegbW_39fAQXpBbkJNSXqw-ySwnPq2MBN-nsXVDs130_assertion description "[One patient with a severe, congenital form of type 2 sialidosis was a compound heterozygote for 239C-to-T (P80L) and 718T-to-C (W240R).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4443.RAahAZegbW_39fAQXpBbkJNSXqw-ySwnPq2MBN-nsXVDs130_provenance.