. . . . . . . "[The RECQL4 gene structure is unusual because it contains many small introns < 100 bp/describe a proband with Rothmund-Thomson syndrome who has a novel 11-bp intronic deletion; this mutation results in a 66-bp intron too small for proper splicing.]. 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 . "2017-10-17T13:17:44+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .