Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP2316.RA_3te23ctonUkZxnEXl-3U32eHnyCZT0XswSTMzfKFQ4#assertion> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- assertion description "[Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_curated provenance.
- assertion SIO_000772 25817015 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.