Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP540762.RAhHXhy1WJfZUB4bxSnfng_9ewZyJs_mB0GNe069KMtRc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP540762.RAhHXhy1WJfZUB4bxSnfng_9ewZyJs_mB0GNe069KMtRc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP540762.RAhHXhy1WJfZUB4bxSnfng_9ewZyJs_mB0GNe069KMtRc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP540762.RAhHXhy1WJfZUB4bxSnfng_9ewZyJs_mB0GNe069KMtRc130_provenance.
- befree-2016 importedOn "2016-02-19" NP540762.RAhHXhy1WJfZUB4bxSnfng_9ewZyJs_mB0GNe069KMtRc130_provenance.
- NP540762.RAhHXhy1WJfZUB4bxSnfng_9ewZyJs_mB0GNe069KMtRc130_assertion wasGeneratedBy ECO_0000203 NP540762.RAhHXhy1WJfZUB4bxSnfng_9ewZyJs_mB0GNe069KMtRc130_provenance.
- NP540762.RAhHXhy1WJfZUB4bxSnfng_9ewZyJs_mB0GNe069KMtRc130_assertion wasDerivedFrom befree-2016 NP540762.RAhHXhy1WJfZUB4bxSnfng_9ewZyJs_mB0GNe069KMtRc130_provenance.
- NP540762.RAhHXhy1WJfZUB4bxSnfng_9ewZyJs_mB0GNe069KMtRc130_assertion SIO_000772 16543359 NP540762.RAhHXhy1WJfZUB4bxSnfng_9ewZyJs_mB0GNe069KMtRc130_provenance.
- NP540762.RAhHXhy1WJfZUB4bxSnfng_9ewZyJs_mB0GNe069KMtRc130_assertion evidence source_evidence_literature NP540762.RAhHXhy1WJfZUB4bxSnfng_9ewZyJs_mB0GNe069KMtRc130_provenance.
- NP540762.RAhHXhy1WJfZUB4bxSnfng_9ewZyJs_mB0GNe069KMtRc130_assertion description "[SOX2 mutations are known to cause severe bilateral eye malformations but this is the first report implicating loss of function mutations in this transcription factor in oesophageal malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP540762.RAhHXhy1WJfZUB4bxSnfng_9ewZyJs_mB0GNe069KMtRc130_provenance.