Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP2279.RAZahkTdqKnbVwpbuni-_VaMo77hCn9UdIPXlrAYe6qF8130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP2279.RAZahkTdqKnbVwpbuni-_VaMo77hCn9UdIPXlrAYe6qF8130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP2279.RAZahkTdqKnbVwpbuni-_VaMo77hCn9UdIPXlrAYe6qF8130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP2279.RAZahkTdqKnbVwpbuni-_VaMo77hCn9UdIPXlrAYe6qF8130_provenance.
- NP2279.RAZahkTdqKnbVwpbuni-_VaMo77hCn9UdIPXlrAYe6qF8130_assertion description "[Morquio A (Mucopolysaccharidosis IVA; MPS IVA) is an autosomal recessive lysosomal storage disorder caused by partial or total deficiency of the enzyme galactosamine-6-sulfate sulfatase (GALNS; also known as N-acetylgalactosamine-6-sulfate sulfatase) encoded by the GALNS gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2279.RAZahkTdqKnbVwpbuni-_VaMo77hCn9UdIPXlrAYe6qF8130_provenance.
- NP2279.RAZahkTdqKnbVwpbuni-_VaMo77hCn9UdIPXlrAYe6qF8130_assertion evidence source_evidence_curated NP2279.RAZahkTdqKnbVwpbuni-_VaMo77hCn9UdIPXlrAYe6qF8130_provenance.
- NP2279.RAZahkTdqKnbVwpbuni-_VaMo77hCn9UdIPXlrAYe6qF8130_assertion SIO_000772 24726177 NP2279.RAZahkTdqKnbVwpbuni-_VaMo77hCn9UdIPXlrAYe6qF8130_provenance.
- NP2279.RAZahkTdqKnbVwpbuni-_VaMo77hCn9UdIPXlrAYe6qF8130_assertion wasDerivedFrom uniprot-20150221 NP2279.RAZahkTdqKnbVwpbuni-_VaMo77hCn9UdIPXlrAYe6qF8130_provenance.
- NP2279.RAZahkTdqKnbVwpbuni-_VaMo77hCn9UdIPXlrAYe6qF8130_assertion wasGeneratedBy ECO_0000218 NP2279.RAZahkTdqKnbVwpbuni-_VaMo77hCn9UdIPXlrAYe6qF8130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP2279.RAZahkTdqKnbVwpbuni-_VaMo77hCn9UdIPXlrAYe6qF8130_provenance.