Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP2810.RA_4_Ocl3i8MnjTOCHEi2_hMCFp9FQUbiGkNI0y6-Lz4o130_assertion> ?p ?o ?g. }
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- NP2810.RA_4_Ocl3i8MnjTOCHEi2_hMCFp9FQUbiGkNI0y6-Lz4o130_assertion type Assertion NP2810.RA_4_Ocl3i8MnjTOCHEi2_hMCFp9FQUbiGkNI0y6-Lz4o130_head.
- NP2810.RA_4_Ocl3i8MnjTOCHEi2_hMCFp9FQUbiGkNI0y6-Lz4o130_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." NP2810.RA_4_Ocl3i8MnjTOCHEi2_hMCFp9FQUbiGkNI0y6-Lz4o130_provenance.
- NP2810.RA_4_Ocl3i8MnjTOCHEi2_hMCFp9FQUbiGkNI0y6-Lz4o130_assertion evidence source_evidence_curated NP2810.RA_4_Ocl3i8MnjTOCHEi2_hMCFp9FQUbiGkNI0y6-Lz4o130_provenance.
- NP2810.RA_4_Ocl3i8MnjTOCHEi2_hMCFp9FQUbiGkNI0y6-Lz4o130_assertion SIO_000772 7925268 NP2810.RA_4_Ocl3i8MnjTOCHEi2_hMCFp9FQUbiGkNI0y6-Lz4o130_provenance.
- NP2810.RA_4_Ocl3i8MnjTOCHEi2_hMCFp9FQUbiGkNI0y6-Lz4o130_assertion wasDerivedFrom uniprot-20130724 NP2810.RA_4_Ocl3i8MnjTOCHEi2_hMCFp9FQUbiGkNI0y6-Lz4o130_provenance.
- NP2810.RA_4_Ocl3i8MnjTOCHEi2_hMCFp9FQUbiGkNI0y6-Lz4o130_assertion wasGeneratedBy ECO_0000218 NP2810.RA_4_Ocl3i8MnjTOCHEi2_hMCFp9FQUbiGkNI0y6-Lz4o130_provenance.