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novopointmutationsinpatientsdiagnosedwithataxiccerebralpalsy
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De novo point mutations in patients diagnosed with ataxic cerebral palsy.
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1
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restrictedrepertoireofdenovomutationsinitpr1causegillespiesyndromewithevidencefordominantnegativeeffect
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A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
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1
