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- source_evidence_curated type ECO_0000205 NP972.RA4efA7s-lz2ZxTLGI05iT3UM1winqBNhDL4G3dtLg7Yg130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP972.RA4efA7s-lz2ZxTLGI05iT3UM1winqBNhDL4G3dtLg7Yg130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP972.RA4efA7s-lz2ZxTLGI05iT3UM1winqBNhDL4G3dtLg7Yg130_provenance.
- NP972.RA4efA7s-lz2ZxTLGI05iT3UM1winqBNhDL4G3dtLg7Yg130_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." NP972.RA4efA7s-lz2ZxTLGI05iT3UM1winqBNhDL4G3dtLg7Yg130_provenance.
- NP972.RA4efA7s-lz2ZxTLGI05iT3UM1winqBNhDL4G3dtLg7Yg130_assertion evidence source_evidence_curated NP972.RA4efA7s-lz2ZxTLGI05iT3UM1winqBNhDL4G3dtLg7Yg130_provenance.
- NP972.RA4efA7s-lz2ZxTLGI05iT3UM1winqBNhDL4G3dtLg7Yg130_assertion SIO_000772 10947946 NP972.RA4efA7s-lz2ZxTLGI05iT3UM1winqBNhDL4G3dtLg7Yg130_provenance.
- NP972.RA4efA7s-lz2ZxTLGI05iT3UM1winqBNhDL4G3dtLg7Yg130_assertion wasDerivedFrom uniprot-2016 NP972.RA4efA7s-lz2ZxTLGI05iT3UM1winqBNhDL4G3dtLg7Yg130_provenance.
- NP972.RA4efA7s-lz2ZxTLGI05iT3UM1winqBNhDL4G3dtLg7Yg130_assertion wasGeneratedBy ECO_0000218 NP972.RA4efA7s-lz2ZxTLGI05iT3UM1winqBNhDL4G3dtLg7Yg130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP972.RA4efA7s-lz2ZxTLGI05iT3UM1winqBNhDL4G3dtLg7Yg130_provenance.