Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype

J. Robert Harkness, Huw B. Thomas, Jill E. Urquhart, Peter Jamieson, Raymond T. O'Keefe, Helen M. Kingston, Charulata Deshpande, William G. Newman

Research output: Contribution to journal › Article › peer-review

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Biochemistry, Genetics and Molecular Biology

Medicine and Dentistry