Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP417804.RARkseHvnuDVVlVy4k5K22JoFPKkAWB8_Oz5GzUPPKFX0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP417804.RARkseHvnuDVVlVy4k5K22JoFPKkAWB8_Oz5GzUPPKFX0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP417804.RARkseHvnuDVVlVy4k5K22JoFPKkAWB8_Oz5GzUPPKFX0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP417804.RARkseHvnuDVVlVy4k5K22JoFPKkAWB8_Oz5GzUPPKFX0130_provenance.
- NP417804.RARkseHvnuDVVlVy4k5K22JoFPKkAWB8_Oz5GzUPPKFX0130_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." NP417804.RARkseHvnuDVVlVy4k5K22JoFPKkAWB8_Oz5GzUPPKFX0130_provenance.
- NP417804.RARkseHvnuDVVlVy4k5K22JoFPKkAWB8_Oz5GzUPPKFX0130_assertion evidence source_evidence_literature NP417804.RARkseHvnuDVVlVy4k5K22JoFPKkAWB8_Oz5GzUPPKFX0130_provenance.
- NP417804.RARkseHvnuDVVlVy4k5K22JoFPKkAWB8_Oz5GzUPPKFX0130_assertion SIO_000772 24726177 NP417804.RARkseHvnuDVVlVy4k5K22JoFPKkAWB8_Oz5GzUPPKFX0130_provenance.
- NP417804.RARkseHvnuDVVlVy4k5K22JoFPKkAWB8_Oz5GzUPPKFX0130_assertion wasDerivedFrom befree-20150227 NP417804.RARkseHvnuDVVlVy4k5K22JoFPKkAWB8_Oz5GzUPPKFX0130_provenance.
- NP417804.RARkseHvnuDVVlVy4k5K22JoFPKkAWB8_Oz5GzUPPKFX0130_assertion wasGeneratedBy ECO_0000203 NP417804.RARkseHvnuDVVlVy4k5K22JoFPKkAWB8_Oz5GzUPPKFX0130_provenance.
- befree-20150227 importedOn "2015-02-27" NP417804.RARkseHvnuDVVlVy4k5K22JoFPKkAWB8_Oz5GzUPPKFX0130_provenance.