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- source_evidence_literature type ECO_0000212 NP1069317.RA9DoOMqZkXpnEN0mejF7rnYxdHHskGwPQXZWwuRx5-1I130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1069317.RA9DoOMqZkXpnEN0mejF7rnYxdHHskGwPQXZWwuRx5-1I130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1069317.RA9DoOMqZkXpnEN0mejF7rnYxdHHskGwPQXZWwuRx5-1I130_provenance.
- NP1069317.RA9DoOMqZkXpnEN0mejF7rnYxdHHskGwPQXZWwuRx5-1I130_assertion description "[These new findings include rare germline mutations in other high penetrant genes, the most important of which include TP53 mutations in Li-Fraumeni syndrome, STK11 mutations in Peutz-Jeghers syndrome, and PTEN mutations in Cowden syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1069317.RA9DoOMqZkXpnEN0mejF7rnYxdHHskGwPQXZWwuRx5-1I130_provenance.
- NP1069317.RA9DoOMqZkXpnEN0mejF7rnYxdHHskGwPQXZWwuRx5-1I130_assertion evidence source_evidence_literature NP1069317.RA9DoOMqZkXpnEN0mejF7rnYxdHHskGwPQXZWwuRx5-1I130_provenance.
- NP1069317.RA9DoOMqZkXpnEN0mejF7rnYxdHHskGwPQXZWwuRx5-1I130_assertion SIO_000772 23586058 NP1069317.RA9DoOMqZkXpnEN0mejF7rnYxdHHskGwPQXZWwuRx5-1I130_provenance.
- NP1069317.RA9DoOMqZkXpnEN0mejF7rnYxdHHskGwPQXZWwuRx5-1I130_assertion wasDerivedFrom befree-2016 NP1069317.RA9DoOMqZkXpnEN0mejF7rnYxdHHskGwPQXZWwuRx5-1I130_provenance.
- NP1069317.RA9DoOMqZkXpnEN0mejF7rnYxdHHskGwPQXZWwuRx5-1I130_assertion wasGeneratedBy ECO_0000203 NP1069317.RA9DoOMqZkXpnEN0mejF7rnYxdHHskGwPQXZWwuRx5-1I130_provenance.
- befree-2016 importedOn "2016-02-19" NP1069317.RA9DoOMqZkXpnEN0mejF7rnYxdHHskGwPQXZWwuRx5-1I130_provenance.