Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP315756.RAvq4zcXOAO7BWjrMYJMTs8oT9R4yu9I6QahEk6sP-KKk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP315756.RAvq4zcXOAO7BWjrMYJMTs8oT9R4yu9I6QahEk6sP-KKk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP315756.RAvq4zcXOAO7BWjrMYJMTs8oT9R4yu9I6QahEk6sP-KKk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP315756.RAvq4zcXOAO7BWjrMYJMTs8oT9R4yu9I6QahEk6sP-KKk130_provenance.
- NP315756.RAvq4zcXOAO7BWjrMYJMTs8oT9R4yu9I6QahEk6sP-KKk130_assertion description "[Recently mutations in the SLC16A2 gene coding for the monocarboxylate thyroid hormone transporter 8, MCT8, have been associated with Allan-Herndon-Dudley syndrome (AHDS), an X-linked condition characterized by severe mental retardation, dysarthria, athetoid movements, muscle hypoplasia and spastic paraplegia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP315756.RAvq4zcXOAO7BWjrMYJMTs8oT9R4yu9I6QahEk6sP-KKk130_provenance.
- NP315756.RAvq4zcXOAO7BWjrMYJMTs8oT9R4yu9I6QahEk6sP-KKk130_assertion evidence source_evidence_literature NP315756.RAvq4zcXOAO7BWjrMYJMTs8oT9R4yu9I6QahEk6sP-KKk130_provenance.
- NP315756.RAvq4zcXOAO7BWjrMYJMTs8oT9R4yu9I6QahEk6sP-KKk130_assertion SIO_000772 20713192 NP315756.RAvq4zcXOAO7BWjrMYJMTs8oT9R4yu9I6QahEk6sP-KKk130_provenance.
- NP315756.RAvq4zcXOAO7BWjrMYJMTs8oT9R4yu9I6QahEk6sP-KKk130_assertion wasDerivedFrom befree-20140225 NP315756.RAvq4zcXOAO7BWjrMYJMTs8oT9R4yu9I6QahEk6sP-KKk130_provenance.
- NP315756.RAvq4zcXOAO7BWjrMYJMTs8oT9R4yu9I6QahEk6sP-KKk130_assertion wasGeneratedBy ECO_0000203 NP315756.RAvq4zcXOAO7BWjrMYJMTs8oT9R4yu9I6QahEk6sP-KKk130_provenance.
- befree-20140225 importedOn "2014-02-25" NP315756.RAvq4zcXOAO7BWjrMYJMTs8oT9R4yu9I6QahEk6sP-KKk130_provenance.