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Mutation Report for: IVS5+2T>C_human-PPT1

IVS5+2T>C_human-PPT1
Gene_Locus|human-PPT1
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|Intron 5c.536+2T>C Splice site Aberrant splicing, Fs after Arg179
    Kinetic parameters|none


    References:
      Title: Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses
      Kousi M, Lehesjoki AE, Mole SE
      Ref: Hum Mutat, 33:42, 2012 : PubMed

              




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