Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP4297.RAIRYeaGvSppdMYS5oeyUV_ST8xyk0Xqcu9djcf54AQ20130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP4297.RAIRYeaGvSppdMYS5oeyUV_ST8xyk0Xqcu9djcf54AQ20130_assertion type Assertion NP4297.RAIRYeaGvSppdMYS5oeyUV_ST8xyk0Xqcu9djcf54AQ20130_head.
- NP4297.RAIRYeaGvSppdMYS5oeyUV_ST8xyk0Xqcu9djcf54AQ20130_assertion description "[Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4297.RAIRYeaGvSppdMYS5oeyUV_ST8xyk0Xqcu9djcf54AQ20130_provenance.
- NP4297.RAIRYeaGvSppdMYS5oeyUV_ST8xyk0Xqcu9djcf54AQ20130_assertion evidence source_evidence_curated NP4297.RAIRYeaGvSppdMYS5oeyUV_ST8xyk0Xqcu9djcf54AQ20130_provenance.
- NP4297.RAIRYeaGvSppdMYS5oeyUV_ST8xyk0Xqcu9djcf54AQ20130_assertion SIO_000772 9486973 NP4297.RAIRYeaGvSppdMYS5oeyUV_ST8xyk0Xqcu9djcf54AQ20130_provenance.
- NP4297.RAIRYeaGvSppdMYS5oeyUV_ST8xyk0Xqcu9djcf54AQ20130_assertion wasDerivedFrom uniprot-20150221 NP4297.RAIRYeaGvSppdMYS5oeyUV_ST8xyk0Xqcu9djcf54AQ20130_provenance.
- NP4297.RAIRYeaGvSppdMYS5oeyUV_ST8xyk0Xqcu9djcf54AQ20130_assertion wasGeneratedBy ECO_0000218 NP4297.RAIRYeaGvSppdMYS5oeyUV_ST8xyk0Xqcu9djcf54AQ20130_provenance.