Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP650530.RADFj4nvUS3u7gFG4aGf3ChhmQmU8xL2NbH3c73mD4z4M130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP650530.RADFj4nvUS3u7gFG4aGf3ChhmQmU8xL2NbH3c73mD4z4M130_assertion type Assertion NP650530.RADFj4nvUS3u7gFG4aGf3ChhmQmU8xL2NbH3c73mD4z4M130_head.
- NP650530.RADFj4nvUS3u7gFG4aGf3ChhmQmU8xL2NbH3c73mD4z4M130_assertion description "[Allan-Herndon-Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP650530.RADFj4nvUS3u7gFG4aGf3ChhmQmU8xL2NbH3c73mD4z4M130_provenance.
- NP650530.RADFj4nvUS3u7gFG4aGf3ChhmQmU8xL2NbH3c73mD4z4M130_assertion evidence source_evidence_literature NP650530.RADFj4nvUS3u7gFG4aGf3ChhmQmU8xL2NbH3c73mD4z4M130_provenance.
- NP650530.RADFj4nvUS3u7gFG4aGf3ChhmQmU8xL2NbH3c73mD4z4M130_assertion SIO_000772 20713192 NP650530.RADFj4nvUS3u7gFG4aGf3ChhmQmU8xL2NbH3c73mD4z4M130_provenance.
- NP650530.RADFj4nvUS3u7gFG4aGf3ChhmQmU8xL2NbH3c73mD4z4M130_assertion wasDerivedFrom befree-20140225 NP650530.RADFj4nvUS3u7gFG4aGf3ChhmQmU8xL2NbH3c73mD4z4M130_provenance.
- NP650530.RADFj4nvUS3u7gFG4aGf3ChhmQmU8xL2NbH3c73mD4z4M130_assertion wasGeneratedBy ECO_0000203 NP650530.RADFj4nvUS3u7gFG4aGf3ChhmQmU8xL2NbH3c73mD4z4M130_provenance.