Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP442423.RAHamHR8ZMmZEcO6ul2Bdx7vI_UFnD3N6ssIhSSLPz-LI130_assertion> ?p ?o ?g. }
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- NP442423.RAHamHR8ZMmZEcO6ul2Bdx7vI_UFnD3N6ssIhSSLPz-LI130_assertion type Assertion NP442423.RAHamHR8ZMmZEcO6ul2Bdx7vI_UFnD3N6ssIhSSLPz-LI130_head.
- NP442423.RAHamHR8ZMmZEcO6ul2Bdx7vI_UFnD3N6ssIhSSLPz-LI130_assertion wasGeneratedBy ECO_0000203 NP442423.RAHamHR8ZMmZEcO6ul2Bdx7vI_UFnD3N6ssIhSSLPz-LI130_provenance.
- NP442423.RAHamHR8ZMmZEcO6ul2Bdx7vI_UFnD3N6ssIhSSLPz-LI130_assertion wasDerivedFrom befree-20140225 NP442423.RAHamHR8ZMmZEcO6ul2Bdx7vI_UFnD3N6ssIhSSLPz-LI130_provenance.
- NP442423.RAHamHR8ZMmZEcO6ul2Bdx7vI_UFnD3N6ssIhSSLPz-LI130_assertion SIO_000772 14668431 NP442423.RAHamHR8ZMmZEcO6ul2Bdx7vI_UFnD3N6ssIhSSLPz-LI130_provenance.
- NP442423.RAHamHR8ZMmZEcO6ul2Bdx7vI_UFnD3N6ssIhSSLPz-LI130_assertion evidence source_evidence_literature NP442423.RAHamHR8ZMmZEcO6ul2Bdx7vI_UFnD3N6ssIhSSLPz-LI130_provenance.
- NP442423.RAHamHR8ZMmZEcO6ul2Bdx7vI_UFnD3N6ssIhSSLPz-LI130_assertion description "[Mutations in ALS2, carrying three putative guanine exchange factor (GEF) domains, are causative for a juvenile, autosomal recessive form of amyotrophic lateral sclerosis (ALS), primary lateral sclerosis, and infantile-ascending hereditary spastic paralysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP442423.RAHamHR8ZMmZEcO6ul2Bdx7vI_UFnD3N6ssIhSSLPz-LI130_provenance.