Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP810440.RAbK9jZ5unS7rrfi41l-RjgaO6dVL1owDO25Mw-QPePew130_assertion> ?p ?o ?g. }
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- NP810440.RAbK9jZ5unS7rrfi41l-RjgaO6dVL1owDO25Mw-QPePew130_assertion type Assertion NP810440.RAbK9jZ5unS7rrfi41l-RjgaO6dVL1owDO25Mw-QPePew130_head.
- NP810440.RAbK9jZ5unS7rrfi41l-RjgaO6dVL1owDO25Mw-QPePew130_assertion description "[Vanishing white matter disease (VWM; MIM #603896), also known as childhood ataxia with central nervous system hypomyelination (CACH) syndrome, is an autosomal recessive transmitted leukoencephalopathy related to mutations in each of the 5 genes (EIF2B1, EIF2B2, EIF2B3, EIF2B4 and EIF2B5) encoding for the 5 subunits of eukaryotic translation initiation factor 2B (eIF2B), essential for protein synthesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP810440.RAbK9jZ5unS7rrfi41l-RjgaO6dVL1owDO25Mw-QPePew130_provenance.
- NP810440.RAbK9jZ5unS7rrfi41l-RjgaO6dVL1owDO25Mw-QPePew130_assertion evidence source_evidence_literature NP810440.RAbK9jZ5unS7rrfi41l-RjgaO6dVL1owDO25Mw-QPePew130_provenance.
- NP810440.RAbK9jZ5unS7rrfi41l-RjgaO6dVL1owDO25Mw-QPePew130_assertion SIO_000772 16998732 NP810440.RAbK9jZ5unS7rrfi41l-RjgaO6dVL1owDO25Mw-QPePew130_provenance.
- NP810440.RAbK9jZ5unS7rrfi41l-RjgaO6dVL1owDO25Mw-QPePew130_assertion wasDerivedFrom befree-20150227 NP810440.RAbK9jZ5unS7rrfi41l-RjgaO6dVL1owDO25Mw-QPePew130_provenance.
- NP810440.RAbK9jZ5unS7rrfi41l-RjgaO6dVL1owDO25Mw-QPePew130_assertion wasGeneratedBy ECO_0000203 NP810440.RAbK9jZ5unS7rrfi41l-RjgaO6dVL1owDO25Mw-QPePew130_provenance.