. . . . . . . "[Previously, two exon 11 small deletions, c.1699_1670?AT (?AT) and c.1706_1709?AGTG (?AGTG), that prematurely truncated or elongated the ALAS2 polypeptide, were reported to increase enzymatic activity 20- to 40-fold, causing the erythroid accumulation of protoporphyrins, cutaneous photosensitivity and liver disease.]. 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 . "2017-10-17T13:10:24+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .