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Mutation Report for: DelEx3Ex7_human-SPG21

Gene_Locushuman-SPG21 Amino Acid change Torpedo number
Mode of mutationNatural mutant
Kinetic parametersnone
    Commenthomozygous deletion in SPG21 from exon 3 through exon 7, 37-year old chinese patient
      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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