Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP6565.RAfS-7G8xQo6Xf9zQHtNSurjZvsA4fl0ixzIOFMyB7S78130_assertion> ?p ?o ?g. }
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- NP6565.RAfS-7G8xQo6Xf9zQHtNSurjZvsA4fl0ixzIOFMyB7S78130_assertion type Assertion NP6565.RAfS-7G8xQo6Xf9zQHtNSurjZvsA4fl0ixzIOFMyB7S78130_head.
- NP6565.RAfS-7G8xQo6Xf9zQHtNSurjZvsA4fl0ixzIOFMyB7S78130_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." NP6565.RAfS-7G8xQo6Xf9zQHtNSurjZvsA4fl0ixzIOFMyB7S78130_provenance.
- NP6565.RAfS-7G8xQo6Xf9zQHtNSurjZvsA4fl0ixzIOFMyB7S78130_assertion evidence source_evidence_curated NP6565.RAfS-7G8xQo6Xf9zQHtNSurjZvsA4fl0ixzIOFMyB7S78130_provenance.
- NP6565.RAfS-7G8xQo6Xf9zQHtNSurjZvsA4fl0ixzIOFMyB7S78130_assertion SIO_000772 19509106 NP6565.RAfS-7G8xQo6Xf9zQHtNSurjZvsA4fl0ixzIOFMyB7S78130_provenance.
- NP6565.RAfS-7G8xQo6Xf9zQHtNSurjZvsA4fl0ixzIOFMyB7S78130_assertion wasDerivedFrom uniprot-20130724 NP6565.RAfS-7G8xQo6Xf9zQHtNSurjZvsA4fl0ixzIOFMyB7S78130_provenance.
- NP6565.RAfS-7G8xQo6Xf9zQHtNSurjZvsA4fl0ixzIOFMyB7S78130_assertion wasGeneratedBy ECO_0000218 NP6565.RAfS-7G8xQo6Xf9zQHtNSurjZvsA4fl0ixzIOFMyB7S78130_provenance.