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- source_evidence_literature type ECO_0000212 NP339395.RAO8a2fIRaw5ekjEa2iZYdRGXb8kXUwKzxOcQBOWRq89o130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP339395.RAO8a2fIRaw5ekjEa2iZYdRGXb8kXUwKzxOcQBOWRq89o130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP339395.RAO8a2fIRaw5ekjEa2iZYdRGXb8kXUwKzxOcQBOWRq89o130_provenance.
- NP339395.RAO8a2fIRaw5ekjEa2iZYdRGXb8kXUwKzxOcQBOWRq89o130_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." NP339395.RAO8a2fIRaw5ekjEa2iZYdRGXb8kXUwKzxOcQBOWRq89o130_provenance.
- NP339395.RAO8a2fIRaw5ekjEa2iZYdRGXb8kXUwKzxOcQBOWRq89o130_assertion evidence source_evidence_literature NP339395.RAO8a2fIRaw5ekjEa2iZYdRGXb8kXUwKzxOcQBOWRq89o130_provenance.
- NP339395.RAO8a2fIRaw5ekjEa2iZYdRGXb8kXUwKzxOcQBOWRq89o130_assertion SIO_000772 20713192 NP339395.RAO8a2fIRaw5ekjEa2iZYdRGXb8kXUwKzxOcQBOWRq89o130_provenance.
- NP339395.RAO8a2fIRaw5ekjEa2iZYdRGXb8kXUwKzxOcQBOWRq89o130_assertion wasDerivedFrom befree-20140225 NP339395.RAO8a2fIRaw5ekjEa2iZYdRGXb8kXUwKzxOcQBOWRq89o130_provenance.
- NP339395.RAO8a2fIRaw5ekjEa2iZYdRGXb8kXUwKzxOcQBOWRq89o130_assertion wasGeneratedBy ECO_0000203 NP339395.RAO8a2fIRaw5ekjEa2iZYdRGXb8kXUwKzxOcQBOWRq89o130_provenance.
- befree-20140225 importedOn "2014-02-25" NP339395.RAO8a2fIRaw5ekjEa2iZYdRGXb8kXUwKzxOcQBOWRq89o130_provenance.