Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP377568.RAZUkE7TVOfXnDNOOQy0z7Wdd0pIhV9W_jOXoyEUw0fG8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP377568.RAZUkE7TVOfXnDNOOQy0z7Wdd0pIhV9W_jOXoyEUw0fG8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP377568.RAZUkE7TVOfXnDNOOQy0z7Wdd0pIhV9W_jOXoyEUw0fG8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP377568.RAZUkE7TVOfXnDNOOQy0z7Wdd0pIhV9W_jOXoyEUw0fG8130_provenance.
- NP377568.RAZUkE7TVOfXnDNOOQy0z7Wdd0pIhV9W_jOXoyEUw0fG8130_assertion description "[Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP377568.RAZUkE7TVOfXnDNOOQy0z7Wdd0pIhV9W_jOXoyEUw0fG8130_provenance.
- NP377568.RAZUkE7TVOfXnDNOOQy0z7Wdd0pIhV9W_jOXoyEUw0fG8130_assertion evidence source_evidence_literature NP377568.RAZUkE7TVOfXnDNOOQy0z7Wdd0pIhV9W_jOXoyEUw0fG8130_provenance.
- NP377568.RAZUkE7TVOfXnDNOOQy0z7Wdd0pIhV9W_jOXoyEUw0fG8130_assertion SIO_000772 18294203 NP377568.RAZUkE7TVOfXnDNOOQy0z7Wdd0pIhV9W_jOXoyEUw0fG8130_provenance.
- NP377568.RAZUkE7TVOfXnDNOOQy0z7Wdd0pIhV9W_jOXoyEUw0fG8130_assertion wasDerivedFrom befree-20140225 NP377568.RAZUkE7TVOfXnDNOOQy0z7Wdd0pIhV9W_jOXoyEUw0fG8130_provenance.
- NP377568.RAZUkE7TVOfXnDNOOQy0z7Wdd0pIhV9W_jOXoyEUw0fG8130_assertion wasGeneratedBy ECO_0000203 NP377568.RAZUkE7TVOfXnDNOOQy0z7Wdd0pIhV9W_jOXoyEUw0fG8130_provenance.
- befree-20140225 importedOn "2014-02-25" NP377568.RAZUkE7TVOfXnDNOOQy0z7Wdd0pIhV9W_jOXoyEUw0fG8130_provenance.