Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1682.RA-ebXfTXkvZ8gCAmhJ_8-pXP3ICgEPzNwvtgAT4T_Y8I130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1682.RA-ebXfTXkvZ8gCAmhJ_8-pXP3ICgEPzNwvtgAT4T_Y8I130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1682.RA-ebXfTXkvZ8gCAmhJ_8-pXP3ICgEPzNwvtgAT4T_Y8I130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1682.RA-ebXfTXkvZ8gCAmhJ_8-pXP3ICgEPzNwvtgAT4T_Y8I130_provenance.
- NP1682.RA-ebXfTXkvZ8gCAmhJ_8-pXP3ICgEPzNwvtgAT4T_Y8I130_assertion description "[She was diagnosed with MLD by genetic analysis, which revealed compound heterozygous ARSA missense mutations (p.G99D and p.T409I).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1682.RA-ebXfTXkvZ8gCAmhJ_8-pXP3ICgEPzNwvtgAT4T_Y8I130_provenance.
- NP1682.RA-ebXfTXkvZ8gCAmhJ_8-pXP3ICgEPzNwvtgAT4T_Y8I130_assertion evidence source_evidence_curated NP1682.RA-ebXfTXkvZ8gCAmhJ_8-pXP3ICgEPzNwvtgAT4T_Y8I130_provenance.
- NP1682.RA-ebXfTXkvZ8gCAmhJ_8-pXP3ICgEPzNwvtgAT4T_Y8I130_assertion SIO_000772 21265945 NP1682.RA-ebXfTXkvZ8gCAmhJ_8-pXP3ICgEPzNwvtgAT4T_Y8I130_provenance.
- NP1682.RA-ebXfTXkvZ8gCAmhJ_8-pXP3ICgEPzNwvtgAT4T_Y8I130_assertion wasDerivedFrom uniprot-20150221 NP1682.RA-ebXfTXkvZ8gCAmhJ_8-pXP3ICgEPzNwvtgAT4T_Y8I130_provenance.
- NP1682.RA-ebXfTXkvZ8gCAmhJ_8-pXP3ICgEPzNwvtgAT4T_Y8I130_assertion wasGeneratedBy ECO_0000218 NP1682.RA-ebXfTXkvZ8gCAmhJ_8-pXP3ICgEPzNwvtgAT4T_Y8I130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP1682.RA-ebXfTXkvZ8gCAmhJ_8-pXP3ICgEPzNwvtgAT4T_Y8I130_provenance.