[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.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE