Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP884594.RAela1ZfNK8lt80z1AF59HwOvx0rtixzQnyOqHBNaY5wg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP884594.RAela1ZfNK8lt80z1AF59HwOvx0rtixzQnyOqHBNaY5wg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP884594.RAela1ZfNK8lt80z1AF59HwOvx0rtixzQnyOqHBNaY5wg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP884594.RAela1ZfNK8lt80z1AF59HwOvx0rtixzQnyOqHBNaY5wg130_provenance.
- NP884594.RAela1ZfNK8lt80z1AF59HwOvx0rtixzQnyOqHBNaY5wg130_assertion description "[Two heterozygous APTX sequence variants (p.L248M and p.D185E) were found in six families with ataxic phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP884594.RAela1ZfNK8lt80z1AF59HwOvx0rtixzQnyOqHBNaY5wg130_provenance.
- NP884594.RAela1ZfNK8lt80z1AF59HwOvx0rtixzQnyOqHBNaY5wg130_assertion evidence source_evidence_literature NP884594.RAela1ZfNK8lt80z1AF59HwOvx0rtixzQnyOqHBNaY5wg130_provenance.
- NP884594.RAela1ZfNK8lt80z1AF59HwOvx0rtixzQnyOqHBNaY5wg130_assertion SIO_000772 21465257 NP884594.RAela1ZfNK8lt80z1AF59HwOvx0rtixzQnyOqHBNaY5wg130_provenance.
- NP884594.RAela1ZfNK8lt80z1AF59HwOvx0rtixzQnyOqHBNaY5wg130_assertion wasDerivedFrom befree-2016 NP884594.RAela1ZfNK8lt80z1AF59HwOvx0rtixzQnyOqHBNaY5wg130_provenance.
- NP884594.RAela1ZfNK8lt80z1AF59HwOvx0rtixzQnyOqHBNaY5wg130_assertion wasGeneratedBy ECO_0000203 NP884594.RAela1ZfNK8lt80z1AF59HwOvx0rtixzQnyOqHBNaY5wg130_provenance.
- befree-2016 importedOn "2016-02-19" NP884594.RAela1ZfNK8lt80z1AF59HwOvx0rtixzQnyOqHBNaY5wg130_provenance.