. . . . . . . "[Whole exome sequencing of the siblings and parents revealed compound heterozygous c.1439C?>?T (p.Ser480Phe) and c.1648C?>?T (p.Arg550Cys) mutations in the ASNS gene, indicating asparagine synthetase (ASNS) deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:10:45+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .