Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP657870.RA_CnKh542PG4O7LB8RUF-aguayJNkdbwa3RaMqkoyHAs130_assertion> ?p ?o ?g. }
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- NP657870.RA_CnKh542PG4O7LB8RUF-aguayJNkdbwa3RaMqkoyHAs130_assertion type Assertion NP657870.RA_CnKh542PG4O7LB8RUF-aguayJNkdbwa3RaMqkoyHAs130_head.
- NP657870.RA_CnKh542PG4O7LB8RUF-aguayJNkdbwa3RaMqkoyHAs130_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." NP657870.RA_CnKh542PG4O7LB8RUF-aguayJNkdbwa3RaMqkoyHAs130_provenance.
- NP657870.RA_CnKh542PG4O7LB8RUF-aguayJNkdbwa3RaMqkoyHAs130_assertion evidence source_evidence_literature NP657870.RA_CnKh542PG4O7LB8RUF-aguayJNkdbwa3RaMqkoyHAs130_provenance.
- NP657870.RA_CnKh542PG4O7LB8RUF-aguayJNkdbwa3RaMqkoyHAs130_assertion SIO_000772 16047349 NP657870.RA_CnKh542PG4O7LB8RUF-aguayJNkdbwa3RaMqkoyHAs130_provenance.
- NP657870.RA_CnKh542PG4O7LB8RUF-aguayJNkdbwa3RaMqkoyHAs130_assertion wasDerivedFrom befree-20140225 NP657870.RA_CnKh542PG4O7LB8RUF-aguayJNkdbwa3RaMqkoyHAs130_provenance.
- NP657870.RA_CnKh542PG4O7LB8RUF-aguayJNkdbwa3RaMqkoyHAs130_assertion wasGeneratedBy ECO_0000203 NP657870.RA_CnKh542PG4O7LB8RUF-aguayJNkdbwa3RaMqkoyHAs130_provenance.