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[2 novel mutations were identified in the LDLR gene of a family with a member suffering from severe Familial hypercholesterolemia; 1 was W165X, G > A substitution and IVS5-1G > A, was also a G > A substitution at the acceptor splice site of intron 5.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
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Gene-disease associations inferred from text-mining the literature.
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