. . . . . . . "[In 16 ESCS patients with the most common NR2E3 mutation, R311Q, we documented an abnormal ratio of S to L/M cone function and progressive retinal degeneration/studied the postmortem retina of an ESCS patient homozygous for NR2E3 R311Q]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2009-03-31"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:17:51+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .