Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP744157.RASyVq_uNrxpYWB3Z9ox-94LfjfeJ4CyUWjVrqVOG8ItM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP744157.RASyVq_uNrxpYWB3Z9ox-94LfjfeJ4CyUWjVrqVOG8ItM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP744157.RASyVq_uNrxpYWB3Z9ox-94LfjfeJ4CyUWjVrqVOG8ItM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP744157.RASyVq_uNrxpYWB3Z9ox-94LfjfeJ4CyUWjVrqVOG8ItM130_provenance.
- NP744157.RASyVq_uNrxpYWB3Z9ox-94LfjfeJ4CyUWjVrqVOG8ItM130_assertion description "[The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP744157.RASyVq_uNrxpYWB3Z9ox-94LfjfeJ4CyUWjVrqVOG8ItM130_provenance.
- NP744157.RASyVq_uNrxpYWB3Z9ox-94LfjfeJ4CyUWjVrqVOG8ItM130_assertion evidence source_evidence_literature NP744157.RASyVq_uNrxpYWB3Z9ox-94LfjfeJ4CyUWjVrqVOG8ItM130_provenance.
- NP744157.RASyVq_uNrxpYWB3Z9ox-94LfjfeJ4CyUWjVrqVOG8ItM130_assertion SIO_000772 19509106 NP744157.RASyVq_uNrxpYWB3Z9ox-94LfjfeJ4CyUWjVrqVOG8ItM130_provenance.
- NP744157.RASyVq_uNrxpYWB3Z9ox-94LfjfeJ4CyUWjVrqVOG8ItM130_assertion wasDerivedFrom befree-2016 NP744157.RASyVq_uNrxpYWB3Z9ox-94LfjfeJ4CyUWjVrqVOG8ItM130_provenance.
- NP744157.RASyVq_uNrxpYWB3Z9ox-94LfjfeJ4CyUWjVrqVOG8ItM130_assertion wasGeneratedBy ECO_0000203 NP744157.RASyVq_uNrxpYWB3Z9ox-94LfjfeJ4CyUWjVrqVOG8ItM130_provenance.
- befree-2016 importedOn "2016-02-19" NP744157.RASyVq_uNrxpYWB3Z9ox-94LfjfeJ4CyUWjVrqVOG8ItM130_provenance.