Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP640423.RAXnAokkzmXWguR5fEyU9Q_g45etl8XWHQD7WRkX6h60Q130_assertion> ?p ?o ?g. }
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- NP640423.RAXnAokkzmXWguR5fEyU9Q_g45etl8XWHQD7WRkX6h60Q130_assertion type Assertion NP640423.RAXnAokkzmXWguR5fEyU9Q_g45etl8XWHQD7WRkX6h60Q130_head.
- NP640423.RAXnAokkzmXWguR5fEyU9Q_g45etl8XWHQD7WRkX6h60Q130_assertion description "[Mutations in the eukaryotic translation initiation factor 2B (eIF2B) represent a heterogenous group of autosomal recessive leucodystrophy characterized by a diffuse CSF-like aspect of the white matter at MRI designed as vanishing white matter (VWM) and episodes of acute deterioration after stresses.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP640423.RAXnAokkzmXWguR5fEyU9Q_g45etl8XWHQD7WRkX6h60Q130_provenance.
- NP640423.RAXnAokkzmXWguR5fEyU9Q_g45etl8XWHQD7WRkX6h60Q130_assertion evidence source_evidence_literature NP640423.RAXnAokkzmXWguR5fEyU9Q_g45etl8XWHQD7WRkX6h60Q130_provenance.
- NP640423.RAXnAokkzmXWguR5fEyU9Q_g45etl8XWHQD7WRkX6h60Q130_assertion SIO_000772 18005052 NP640423.RAXnAokkzmXWguR5fEyU9Q_g45etl8XWHQD7WRkX6h60Q130_provenance.
- NP640423.RAXnAokkzmXWguR5fEyU9Q_g45etl8XWHQD7WRkX6h60Q130_assertion wasDerivedFrom befree-2016 NP640423.RAXnAokkzmXWguR5fEyU9Q_g45etl8XWHQD7WRkX6h60Q130_provenance.
- NP640423.RAXnAokkzmXWguR5fEyU9Q_g45etl8XWHQD7WRkX6h60Q130_assertion wasGeneratedBy ECO_0000203 NP640423.RAXnAokkzmXWguR5fEyU9Q_g45etl8XWHQD7WRkX6h60Q130_provenance.