Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex (Q33683084)

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Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex
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    Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex (English)
    Maheshwar MM
    van Essen AJ
    Bink-Boelkens MT
    van Elburg RM
    Lindhout D
    van den Ouweland AM

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