Cancer Risk Associated with Germline DNA Mismatch Repair Gene Mutations

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Oxford University Press

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Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene

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MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels

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Mutation spectrum and splicing variants in the gene

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