Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP528464.RA4a8FPD2urQkr7itYbTf-WCBN0eBVoGQctgkGeY3Xp-c130_assertion> ?p ?o ?g. }
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- NP528464.RA4a8FPD2urQkr7itYbTf-WCBN0eBVoGQctgkGeY3Xp-c130_assertion type Assertion NP528464.RA4a8FPD2urQkr7itYbTf-WCBN0eBVoGQctgkGeY3Xp-c130_head.
- NP528464.RA4a8FPD2urQkr7itYbTf-WCBN0eBVoGQctgkGeY3Xp-c130_assertion description "[Mutations in eukaryotic initiation factor 2B (eIF2B) cause one of the most common leukodystrophies, childhood ataxia with CNS hypomyelination/vanishing white matter disease or CACH/VWM.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP528464.RA4a8FPD2urQkr7itYbTf-WCBN0eBVoGQctgkGeY3Xp-c130_provenance.
- NP528464.RA4a8FPD2urQkr7itYbTf-WCBN0eBVoGQctgkGeY3Xp-c130_assertion evidence source_evidence_literature NP528464.RA4a8FPD2urQkr7itYbTf-WCBN0eBVoGQctgkGeY3Xp-c130_provenance.
- NP528464.RA4a8FPD2urQkr7itYbTf-WCBN0eBVoGQctgkGeY3Xp-c130_assertion SIO_000772 16378743 NP528464.RA4a8FPD2urQkr7itYbTf-WCBN0eBVoGQctgkGeY3Xp-c130_provenance.
- NP528464.RA4a8FPD2urQkr7itYbTf-WCBN0eBVoGQctgkGeY3Xp-c130_assertion wasDerivedFrom befree-2016 NP528464.RA4a8FPD2urQkr7itYbTf-WCBN0eBVoGQctgkGeY3Xp-c130_provenance.
- NP528464.RA4a8FPD2urQkr7itYbTf-WCBN0eBVoGQctgkGeY3Xp-c130_assertion wasGeneratedBy ECO_0000203 NP528464.RA4a8FPD2urQkr7itYbTf-WCBN0eBVoGQctgkGeY3Xp-c130_provenance.