Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP371492.RALxGJtO1h19RhB6QpNqyjeGsS6VEhb_5K2MVp7zGa6L4130_assertion> ?p ?o ?g. }
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- NP371492.RALxGJtO1h19RhB6QpNqyjeGsS6VEhb_5K2MVp7zGa6L4130_assertion type Assertion NP371492.RALxGJtO1h19RhB6QpNqyjeGsS6VEhb_5K2MVp7zGa6L4130_head.
- NP371492.RALxGJtO1h19RhB6QpNqyjeGsS6VEhb_5K2MVp7zGa6L4130_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." NP371492.RALxGJtO1h19RhB6QpNqyjeGsS6VEhb_5K2MVp7zGa6L4130_provenance.
- NP371492.RALxGJtO1h19RhB6QpNqyjeGsS6VEhb_5K2MVp7zGa6L4130_assertion evidence source_evidence_literature NP371492.RALxGJtO1h19RhB6QpNqyjeGsS6VEhb_5K2MVp7zGa6L4130_provenance.
- NP371492.RALxGJtO1h19RhB6QpNqyjeGsS6VEhb_5K2MVp7zGa6L4130_assertion SIO_000772 18005052 NP371492.RALxGJtO1h19RhB6QpNqyjeGsS6VEhb_5K2MVp7zGa6L4130_provenance.
- NP371492.RALxGJtO1h19RhB6QpNqyjeGsS6VEhb_5K2MVp7zGa6L4130_assertion wasDerivedFrom befree-20150227 NP371492.RALxGJtO1h19RhB6QpNqyjeGsS6VEhb_5K2MVp7zGa6L4130_provenance.
- NP371492.RALxGJtO1h19RhB6QpNqyjeGsS6VEhb_5K2MVp7zGa6L4130_assertion wasGeneratedBy ECO_0000203 NP371492.RALxGJtO1h19RhB6QpNqyjeGsS6VEhb_5K2MVp7zGa6L4130_provenance.