Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP971.RAWu6g7jJ9QpZoS8LoEPi706IMy2PNsmSRN2WXQwtMsRw130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP971.RAWu6g7jJ9QpZoS8LoEPi706IMy2PNsmSRN2WXQwtMsRw130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP971.RAWu6g7jJ9QpZoS8LoEPi706IMy2PNsmSRN2WXQwtMsRw130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP971.RAWu6g7jJ9QpZoS8LoEPi706IMy2PNsmSRN2WXQwtMsRw130_provenance.
- NP971.RAWu6g7jJ9QpZoS8LoEPi706IMy2PNsmSRN2WXQwtMsRw130_assertion description "[In the present study, we have identified a large number of mutations in SLC17A5 in patients presenting with either Salla disease or the ISSD phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP971.RAWu6g7jJ9QpZoS8LoEPi706IMy2PNsmSRN2WXQwtMsRw130_provenance.
- NP971.RAWu6g7jJ9QpZoS8LoEPi706IMy2PNsmSRN2WXQwtMsRw130_assertion evidence source_evidence_curated NP971.RAWu6g7jJ9QpZoS8LoEPi706IMy2PNsmSRN2WXQwtMsRw130_provenance.
- NP971.RAWu6g7jJ9QpZoS8LoEPi706IMy2PNsmSRN2WXQwtMsRw130_assertion SIO_000772 10947946 NP971.RAWu6g7jJ9QpZoS8LoEPi706IMy2PNsmSRN2WXQwtMsRw130_provenance.
- NP971.RAWu6g7jJ9QpZoS8LoEPi706IMy2PNsmSRN2WXQwtMsRw130_assertion wasDerivedFrom uniprot-2016 NP971.RAWu6g7jJ9QpZoS8LoEPi706IMy2PNsmSRN2WXQwtMsRw130_provenance.
- NP971.RAWu6g7jJ9QpZoS8LoEPi706IMy2PNsmSRN2WXQwtMsRw130_assertion wasGeneratedBy ECO_0000218 NP971.RAWu6g7jJ9QpZoS8LoEPi706IMy2PNsmSRN2WXQwtMsRw130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP971.RAWu6g7jJ9QpZoS8LoEPi706IMy2PNsmSRN2WXQwtMsRw130_provenance.