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[The findings in the present family illustrate that the typical characteristics of the fragile X syndrome can be caused by other types of mutations involving the FMR1 than the highly expanded stretches of CGG repeats in the 5' noncoding region of the FMR1 gene, coinciding with abnormal methylation patterns in that area as present in the vast majority of individuals with the fragile X syndrome.]. 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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