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Mutation Report for: IVS2_human-ABHD12

IVS2_human-ABHD12
Gene_Locus|human-ABHD12
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|a splice site mutation splice site of intron 2 c.316+2T>A
    Kinetic parameters|none


    References:
      Title: Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness
      Yoshimura H, Hashimoto T, Murata T, Fukushima K, Sugaya A, Nishio SY, Usami S
      Ref: Ann Otol Rhinol Laryngol, 124 Suppl 1:77S, 2015 : PubMed

              




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