Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP6719.RAzVk9OW0_a0NYD0lbTlQe5RZypxTbzYas0VfOB4xi9iE130_assertion> ?p ?o ?g. }
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- NP6719.RAzVk9OW0_a0NYD0lbTlQe5RZypxTbzYas0VfOB4xi9iE130_assertion type Assertion NP6719.RAzVk9OW0_a0NYD0lbTlQe5RZypxTbzYas0VfOB4xi9iE130_head.
- NP6719.RAzVk9OW0_a0NYD0lbTlQe5RZypxTbzYas0VfOB4xi9iE130_assertion description "[Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6719.RAzVk9OW0_a0NYD0lbTlQe5RZypxTbzYas0VfOB4xi9iE130_provenance.
- NP6719.RAzVk9OW0_a0NYD0lbTlQe5RZypxTbzYas0VfOB4xi9iE130_assertion evidence source_evidence_curated NP6719.RAzVk9OW0_a0NYD0lbTlQe5RZypxTbzYas0VfOB4xi9iE130_provenance.
- NP6719.RAzVk9OW0_a0NYD0lbTlQe5RZypxTbzYas0VfOB4xi9iE130_assertion SIO_000772 11916616 NP6719.RAzVk9OW0_a0NYD0lbTlQe5RZypxTbzYas0VfOB4xi9iE130_provenance.
- NP6719.RAzVk9OW0_a0NYD0lbTlQe5RZypxTbzYas0VfOB4xi9iE130_assertion wasDerivedFrom uniprot-20130724 NP6719.RAzVk9OW0_a0NYD0lbTlQe5RZypxTbzYas0VfOB4xi9iE130_provenance.
- NP6719.RAzVk9OW0_a0NYD0lbTlQe5RZypxTbzYas0VfOB4xi9iE130_assertion wasGeneratedBy ECO_0000218 NP6719.RAzVk9OW0_a0NYD0lbTlQe5RZypxTbzYas0VfOB4xi9iE130_provenance.