Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1327181.RAWKc0Nj-3L5n9mI-tY_L-VmWFkDggdI7srSwuZjkv8oc130_assertion> ?p ?o ?g. }
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- NP1327181.RAWKc0Nj-3L5n9mI-tY_L-VmWFkDggdI7srSwuZjkv8oc130_assertion type Assertion NP1327181.RAWKc0Nj-3L5n9mI-tY_L-VmWFkDggdI7srSwuZjkv8oc130_head.
- 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.