Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1172788.RA1aW9hDlz1JTaAxMskiG5NZ3ITEW8DKkAiXSU8FBATLg130_assertion> ?p ?o ?g. }
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- NP1172788.RA1aW9hDlz1JTaAxMskiG5NZ3ITEW8DKkAiXSU8FBATLg130_assertion type Assertion NP1172788.RA1aW9hDlz1JTaAxMskiG5NZ3ITEW8DKkAiXSU8FBATLg130_head.
- NP1172788.RA1aW9hDlz1JTaAxMskiG5NZ3ITEW8DKkAiXSU8FBATLg130_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." NP1172788.RA1aW9hDlz1JTaAxMskiG5NZ3ITEW8DKkAiXSU8FBATLg130_provenance.
- NP1172788.RA1aW9hDlz1JTaAxMskiG5NZ3ITEW8DKkAiXSU8FBATLg130_assertion evidence source_evidence_literature NP1172788.RA1aW9hDlz1JTaAxMskiG5NZ3ITEW8DKkAiXSU8FBATLg130_provenance.
- NP1172788.RA1aW9hDlz1JTaAxMskiG5NZ3ITEW8DKkAiXSU8FBATLg130_assertion SIO_000772 24726177 NP1172788.RA1aW9hDlz1JTaAxMskiG5NZ3ITEW8DKkAiXSU8FBATLg130_provenance.
- NP1172788.RA1aW9hDlz1JTaAxMskiG5NZ3ITEW8DKkAiXSU8FBATLg130_assertion wasDerivedFrom befree-2016 NP1172788.RA1aW9hDlz1JTaAxMskiG5NZ3ITEW8DKkAiXSU8FBATLg130_provenance.
- NP1172788.RA1aW9hDlz1JTaAxMskiG5NZ3ITEW8DKkAiXSU8FBATLg130_assertion wasGeneratedBy ECO_0000203 NP1172788.RA1aW9hDlz1JTaAxMskiG5NZ3ITEW8DKkAiXSU8FBATLg130_provenance.