Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP700756.RACRa0_e26VFyCgcKajdy2OI1Mx_3YW-ueGin8z3N-Dho130_assertion> ?p ?o ?g. }
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- NP700756.RACRa0_e26VFyCgcKajdy2OI1Mx_3YW-ueGin8z3N-Dho130_assertion type Assertion NP700756.RACRa0_e26VFyCgcKajdy2OI1Mx_3YW-ueGin8z3N-Dho130_head.
- NP700756.RACRa0_e26VFyCgcKajdy2OI1Mx_3YW-ueGin8z3N-Dho130_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." NP700756.RACRa0_e26VFyCgcKajdy2OI1Mx_3YW-ueGin8z3N-Dho130_provenance.
- NP700756.RACRa0_e26VFyCgcKajdy2OI1Mx_3YW-ueGin8z3N-Dho130_assertion evidence source_evidence_literature NP700756.RACRa0_e26VFyCgcKajdy2OI1Mx_3YW-ueGin8z3N-Dho130_provenance.
- NP700756.RACRa0_e26VFyCgcKajdy2OI1Mx_3YW-ueGin8z3N-Dho130_assertion SIO_000772 20713192 NP700756.RACRa0_e26VFyCgcKajdy2OI1Mx_3YW-ueGin8z3N-Dho130_provenance.
- NP700756.RACRa0_e26VFyCgcKajdy2OI1Mx_3YW-ueGin8z3N-Dho130_assertion wasDerivedFrom befree-20150227 NP700756.RACRa0_e26VFyCgcKajdy2OI1Mx_3YW-ueGin8z3N-Dho130_provenance.
- NP700756.RACRa0_e26VFyCgcKajdy2OI1Mx_3YW-ueGin8z3N-Dho130_assertion wasGeneratedBy ECO_0000203 NP700756.RACRa0_e26VFyCgcKajdy2OI1Mx_3YW-ueGin8z3N-Dho130_provenance.