. . . . . . . "[Heterozygous in-frame mutations (p.E2207del and p.R2308_M2309dup) in the ?-II subunit of spectrin (SPTAN1) were recently identified in two patients with intellectual disability (ID), infantile spasms (IS), hypomyelination, and brain atrophy.]. 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 . "2017-10-17T13:16:25+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .