Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP567877.RAB2iKe8BzOVJ291vvRyDeYXiqVtT6xOw-9vee4F5l6m4130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP567877.RAB2iKe8BzOVJ291vvRyDeYXiqVtT6xOw-9vee4F5l6m4130_assertion type Assertion NP567877.RAB2iKe8BzOVJ291vvRyDeYXiqVtT6xOw-9vee4F5l6m4130_head.
- NP567877.RAB2iKe8BzOVJ291vvRyDeYXiqVtT6xOw-9vee4F5l6m4130_assertion description "[We report in an affected man and his mother an adult-onset form of childhood ataxia with central nervous system hypomyelination/vanishing white matter disease-like disorder with no mutations in the EIF2B genes and normal guanine nucleotide exchange factor eIF2B activity, suggesting a new dominant inheritance of this syndrome that may involve other genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP567877.RAB2iKe8BzOVJ291vvRyDeYXiqVtT6xOw-9vee4F5l6m4130_provenance.
- NP567877.RAB2iKe8BzOVJ291vvRyDeYXiqVtT6xOw-9vee4F5l6m4130_assertion evidence source_evidence_literature NP567877.RAB2iKe8BzOVJ291vvRyDeYXiqVtT6xOw-9vee4F5l6m4130_provenance.
- NP567877.RAB2iKe8BzOVJ291vvRyDeYXiqVtT6xOw-9vee4F5l6m4130_assertion SIO_000772 16047349 NP567877.RAB2iKe8BzOVJ291vvRyDeYXiqVtT6xOw-9vee4F5l6m4130_provenance.
- NP567877.RAB2iKe8BzOVJ291vvRyDeYXiqVtT6xOw-9vee4F5l6m4130_assertion wasDerivedFrom befree-20140225 NP567877.RAB2iKe8BzOVJ291vvRyDeYXiqVtT6xOw-9vee4F5l6m4130_provenance.
- NP567877.RAB2iKe8BzOVJ291vvRyDeYXiqVtT6xOw-9vee4F5l6m4130_assertion wasGeneratedBy ECO_0000203 NP567877.RAB2iKe8BzOVJ291vvRyDeYXiqVtT6xOw-9vee4F5l6m4130_provenance.