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Oxford University Press

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A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe

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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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Human Molecular Genetics, Vol. 12, Iss. 16, 2003-08 ,pp. : 2031-2040

Oxford University Press

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Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses

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Molecular Genetics & Genomic Medicine, Vol. 3, Iss. 4, 2015-07 ,pp. : 327-345

John Wiley & Sons Inc

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Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

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