Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP810419.RAWWRNWPkJK93QDC0M9hQSsAmDzP8-WQHOI04oTz9zOPg130_assertion> ?p ?o ?g. }
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- NP810419.RAWWRNWPkJK93QDC0M9hQSsAmDzP8-WQHOI04oTz9zOPg130_assertion type Assertion NP810419.RAWWRNWPkJK93QDC0M9hQSsAmDzP8-WQHOI04oTz9zOPg130_head.
- NP810419.RAWWRNWPkJK93QDC0M9hQSsAmDzP8-WQHOI04oTz9zOPg130_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." NP810419.RAWWRNWPkJK93QDC0M9hQSsAmDzP8-WQHOI04oTz9zOPg130_provenance.
- NP810419.RAWWRNWPkJK93QDC0M9hQSsAmDzP8-WQHOI04oTz9zOPg130_assertion evidence source_evidence_literature NP810419.RAWWRNWPkJK93QDC0M9hQSsAmDzP8-WQHOI04oTz9zOPg130_provenance.
- NP810419.RAWWRNWPkJK93QDC0M9hQSsAmDzP8-WQHOI04oTz9zOPg130_assertion SIO_000772 16998732 NP810419.RAWWRNWPkJK93QDC0M9hQSsAmDzP8-WQHOI04oTz9zOPg130_provenance.
- NP810419.RAWWRNWPkJK93QDC0M9hQSsAmDzP8-WQHOI04oTz9zOPg130_assertion wasDerivedFrom befree-20150227 NP810419.RAWWRNWPkJK93QDC0M9hQSsAmDzP8-WQHOI04oTz9zOPg130_provenance.
- NP810419.RAWWRNWPkJK93QDC0M9hQSsAmDzP8-WQHOI04oTz9zOPg130_assertion wasGeneratedBy ECO_0000203 NP810419.RAWWRNWPkJK93QDC0M9hQSsAmDzP8-WQHOI04oTz9zOPg130_provenance.