Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP8558.RAi_RJCzIjoukKA1jrCGfxeGJJDp0IGoNVQ5eIdT2lsbI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP8558.RAi_RJCzIjoukKA1jrCGfxeGJJDp0IGoNVQ5eIdT2lsbI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP8558.RAi_RJCzIjoukKA1jrCGfxeGJJDp0IGoNVQ5eIdT2lsbI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP8558.RAi_RJCzIjoukKA1jrCGfxeGJJDp0IGoNVQ5eIdT2lsbI130_provenance.
- NP8558.RAi_RJCzIjoukKA1jrCGfxeGJJDp0IGoNVQ5eIdT2lsbI130_assertion description "[Metachromatic leukodystrophy is a lysosomal storage disease caused by deficiency of arylsulfatase A. Sequencing of the arylsulfatase A genes of an Ashkenazi Jewish patient suffering from the severe late infantile form of the disease revealed a point mutation in exon 2 causing proline 136 to be substituted by leucine.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP8558.RAi_RJCzIjoukKA1jrCGfxeGJJDp0IGoNVQ5eIdT2lsbI130_provenance.
- NP8558.RAi_RJCzIjoukKA1jrCGfxeGJJDp0IGoNVQ5eIdT2lsbI130_assertion evidence source_evidence_curated NP8558.RAi_RJCzIjoukKA1jrCGfxeGJJDp0IGoNVQ5eIdT2lsbI130_provenance.
- NP8558.RAi_RJCzIjoukKA1jrCGfxeGJJDp0IGoNVQ5eIdT2lsbI130_assertion SIO_000772 7860068 NP8558.RAi_RJCzIjoukKA1jrCGfxeGJJDp0IGoNVQ5eIdT2lsbI130_provenance.
- NP8558.RAi_RJCzIjoukKA1jrCGfxeGJJDp0IGoNVQ5eIdT2lsbI130_assertion wasDerivedFrom uniprot-2016 NP8558.RAi_RJCzIjoukKA1jrCGfxeGJJDp0IGoNVQ5eIdT2lsbI130_provenance.
- NP8558.RAi_RJCzIjoukKA1jrCGfxeGJJDp0IGoNVQ5eIdT2lsbI130_assertion wasGeneratedBy ECO_0000218 NP8558.RAi_RJCzIjoukKA1jrCGfxeGJJDp0IGoNVQ5eIdT2lsbI130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP8558.RAi_RJCzIjoukKA1jrCGfxeGJJDp0IGoNVQ5eIdT2lsbI130_provenance.