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Mutation Report for: DelEx3Ex7_human-SPG21

DelEx3Ex7_human-SPG21
Gene_Locus|human-SPG21
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|homozygous deletion in SPG21 from exon 3 through exon 7, 37-year old chinese patient
    Kinetic parameters|none


    References:
      Title: Identification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome
      Xue YY, Huang XR, Dong HL, Wu ZY, Li HF
      Ref: CNS Neurosci Ther, :, 2021 : PubMed

              




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