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- source_evidence_literature type ECO_0000212 NP718934.RAlmxJmhdMRrZfLBAYPXDPdqT_mN6H6_s5Nx7kZzLKZEo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP718934.RAlmxJmhdMRrZfLBAYPXDPdqT_mN6H6_s5Nx7kZzLKZEo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP718934.RAlmxJmhdMRrZfLBAYPXDPdqT_mN6H6_s5Nx7kZzLKZEo130_provenance.
- NP718934.RAlmxJmhdMRrZfLBAYPXDPdqT_mN6H6_s5Nx7kZzLKZEo130_assertion description "[Biallelic mutations in the NIS gene lead to a congenital iodide transport defect, an autosomal recessive condition characterized by hypothyroidism, goiter, low thyroid iodide uptake, and a low saliva/plasma iodide ratio.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP718934.RAlmxJmhdMRrZfLBAYPXDPdqT_mN6H6_s5Nx7kZzLKZEo130_provenance.
- NP718934.RAlmxJmhdMRrZfLBAYPXDPdqT_mN6H6_s5Nx7kZzLKZEo130_assertion evidence source_evidence_literature NP718934.RAlmxJmhdMRrZfLBAYPXDPdqT_mN6H6_s5Nx7kZzLKZEo130_provenance.
- NP718934.RAlmxJmhdMRrZfLBAYPXDPdqT_mN6H6_s5Nx7kZzLKZEo130_assertion SIO_000772 19196800 NP718934.RAlmxJmhdMRrZfLBAYPXDPdqT_mN6H6_s5Nx7kZzLKZEo130_provenance.
- NP718934.RAlmxJmhdMRrZfLBAYPXDPdqT_mN6H6_s5Nx7kZzLKZEo130_assertion wasDerivedFrom befree-2016 NP718934.RAlmxJmhdMRrZfLBAYPXDPdqT_mN6H6_s5Nx7kZzLKZEo130_provenance.
- NP718934.RAlmxJmhdMRrZfLBAYPXDPdqT_mN6H6_s5Nx7kZzLKZEo130_assertion wasGeneratedBy ECO_0000203 NP718934.RAlmxJmhdMRrZfLBAYPXDPdqT_mN6H6_s5Nx7kZzLKZEo130_provenance.
- befree-2016 importedOn "2016-02-19" NP718934.RAlmxJmhdMRrZfLBAYPXDPdqT_mN6H6_s5Nx7kZzLKZEo130_provenance.