. . . . . . . "[With a combination of homozygozity mapping and exome sequencing, we identified three mutations in STUB1 in two families with ARCA and cognitive impairment; a homozygous missense variant (c.194A?>?G, p.Asn65Ser) that segregated in three affected siblings, and a missense change (c.82G?>?A, p.Glu28Lys) which was inherited in trans with a nonsense mutation (c.430A?>?T, p.Lys144Ter) in another patient.]. 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 . "2017-10-17T13:17:54+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .