. . . . . . . "[3 novel splice-site mutations (c.904+4A-- > G in intron 8, c.3843-2A-- > G in intron 24 & c.4217-1G-- > T in intron 25) were characterized correlated with pathogenic effects in familial hypobetalipoproteinemia.]. 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 . "2017-10-17T13:10:32+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .