. . . . . . . "[Here, we report that a homozygous single base pair substitution in POLE1 (polymerase ? 1), encoding the catalytic subunit of Pol?, caused facial dysmorphism, immunodeficiency, livedo, and short stature ('FILS syndrome') in a large, consanguineous family.]. 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 . "2017-10-17T13:15:31+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .