Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP3717.RAj7RAD48BOCgkaNw2ZLqDES8PQTPoarH7xYWihqYbDaM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3717.RAj7RAD48BOCgkaNw2ZLqDES8PQTPoarH7xYWihqYbDaM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3717.RAj7RAD48BOCgkaNw2ZLqDES8PQTPoarH7xYWihqYbDaM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3717.RAj7RAD48BOCgkaNw2ZLqDES8PQTPoarH7xYWihqYbDaM130_provenance.
- NP3717.RAj7RAD48BOCgkaNw2ZLqDES8PQTPoarH7xYWihqYbDaM130_assertion description "[Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3717.RAj7RAD48BOCgkaNw2ZLqDES8PQTPoarH7xYWihqYbDaM130_provenance.
- NP3717.RAj7RAD48BOCgkaNw2ZLqDES8PQTPoarH7xYWihqYbDaM130_assertion evidence source_evidence_curated NP3717.RAj7RAD48BOCgkaNw2ZLqDES8PQTPoarH7xYWihqYbDaM130_provenance.
- NP3717.RAj7RAD48BOCgkaNw2ZLqDES8PQTPoarH7xYWihqYbDaM130_assertion SIO_000772 1550123 NP3717.RAj7RAD48BOCgkaNw2ZLqDES8PQTPoarH7xYWihqYbDaM130_provenance.
- NP3717.RAj7RAD48BOCgkaNw2ZLqDES8PQTPoarH7xYWihqYbDaM130_assertion wasDerivedFrom uniprot-2016 NP3717.RAj7RAD48BOCgkaNw2ZLqDES8PQTPoarH7xYWihqYbDaM130_provenance.
- NP3717.RAj7RAD48BOCgkaNw2ZLqDES8PQTPoarH7xYWihqYbDaM130_assertion wasGeneratedBy ECO_0000218 NP3717.RAj7RAD48BOCgkaNw2ZLqDES8PQTPoarH7xYWihqYbDaM130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP3717.RAj7RAD48BOCgkaNw2ZLqDES8PQTPoarH7xYWihqYbDaM130_provenance.