Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1327181.RAWKc0Nj-3L5n9mI-tY_L-VmWFkDggdI7srSwuZjkv8oc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1327181.RAWKc0Nj-3L5n9mI-tY_L-VmWFkDggdI7srSwuZjkv8oc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1327181.RAWKc0Nj-3L5n9mI-tY_L-VmWFkDggdI7srSwuZjkv8oc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1327181.RAWKc0Nj-3L5n9mI-tY_L-VmWFkDggdI7srSwuZjkv8oc130_provenance.
- NP1327181.RAWKc0Nj-3L5n9mI-tY_L-VmWFkDggdI7srSwuZjkv8oc130_assertion description "[Hereditary hyperekplexia is a dominant neurological disorder associated with point mutations at the channel-forming segment M2 of the glycine receptor alpha 1 subunit.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1327181.RAWKc0Nj-3L5n9mI-tY_L-VmWFkDggdI7srSwuZjkv8oc130_provenance.
- NP1327181.RAWKc0Nj-3L5n9mI-tY_L-VmWFkDggdI7srSwuZjkv8oc130_assertion evidence source_evidence_literature NP1327181.RAWKc0Nj-3L5n9mI-tY_L-VmWFkDggdI7srSwuZjkv8oc130_provenance.
- NP1327181.RAWKc0Nj-3L5n9mI-tY_L-VmWFkDggdI7srSwuZjkv8oc130_assertion SIO_000772 7925268 NP1327181.RAWKc0Nj-3L5n9mI-tY_L-VmWFkDggdI7srSwuZjkv8oc130_provenance.
- NP1327181.RAWKc0Nj-3L5n9mI-tY_L-VmWFkDggdI7srSwuZjkv8oc130_assertion wasDerivedFrom befree-2016 NP1327181.RAWKc0Nj-3L5n9mI-tY_L-VmWFkDggdI7srSwuZjkv8oc130_provenance.
- NP1327181.RAWKc0Nj-3L5n9mI-tY_L-VmWFkDggdI7srSwuZjkv8oc130_assertion wasGeneratedBy ECO_0000203 NP1327181.RAWKc0Nj-3L5n9mI-tY_L-VmWFkDggdI7srSwuZjkv8oc130_provenance.
- befree-2016 importedOn "2016-02-19" NP1327181.RAWKc0Nj-3L5n9mI-tY_L-VmWFkDggdI7srSwuZjkv8oc130_provenance.