Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP288008.RABpEFgTilA9M7KTmi7C80PVUho54vrQ7dq_hdd6IiB5E130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP288008.RABpEFgTilA9M7KTmi7C80PVUho54vrQ7dq_hdd6IiB5E130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP288008.RABpEFgTilA9M7KTmi7C80PVUho54vrQ7dq_hdd6IiB5E130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP288008.RABpEFgTilA9M7KTmi7C80PVUho54vrQ7dq_hdd6IiB5E130_provenance.
- NP288008.RABpEFgTilA9M7KTmi7C80PVUho54vrQ7dq_hdd6IiB5E130_assertion description "[Individuals with germline mutations of the SHH receptor gene PTCH are at high risk of developmental anomalies and of basal-cell carcinomas, medulloblastomas and other cancers (a pattern consistent with nevoid basal-cell carcinoma syndrome, NBCCS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP288008.RABpEFgTilA9M7KTmi7C80PVUho54vrQ7dq_hdd6IiB5E130_provenance.
- NP288008.RABpEFgTilA9M7KTmi7C80PVUho54vrQ7dq_hdd6IiB5E130_assertion evidence source_evidence_literature NP288008.RABpEFgTilA9M7KTmi7C80PVUho54vrQ7dq_hdd6IiB5E130_provenance.
- NP288008.RABpEFgTilA9M7KTmi7C80PVUho54vrQ7dq_hdd6IiB5E130_assertion SIO_000772 12068298 NP288008.RABpEFgTilA9M7KTmi7C80PVUho54vrQ7dq_hdd6IiB5E130_provenance.
- NP288008.RABpEFgTilA9M7KTmi7C80PVUho54vrQ7dq_hdd6IiB5E130_assertion wasDerivedFrom befree-20140225 NP288008.RABpEFgTilA9M7KTmi7C80PVUho54vrQ7dq_hdd6IiB5E130_provenance.
- NP288008.RABpEFgTilA9M7KTmi7C80PVUho54vrQ7dq_hdd6IiB5E130_assertion wasGeneratedBy ECO_0000203 NP288008.RABpEFgTilA9M7KTmi7C80PVUho54vrQ7dq_hdd6IiB5E130_provenance.
- befree-20140225 importedOn "2014-02-25" NP288008.RABpEFgTilA9M7KTmi7C80PVUho54vrQ7dq_hdd6IiB5E130_provenance.