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Mutation Report for: T192QfsX25_human-ABHD16A

T192QfsX25_human-ABHD16A
Gene_Locus|human-ABHD16A
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.T192QfsX25 p.Thr192GlnfsTer25 c.1333C>T c.573delG This variant was identified in trans, Compound heterozygote, with another ABHD16A variant
    Kinetic parameters|none


    References:
      Title: ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies
      Lemire G, Ito YA, Marshall AE, Chrestian N, Stanley V, Brady L, Tarnopolsky M, Curry CJ, Hartley T and Boycott KM <13 more author(s)>
      Ref: American Journal of Human Genetics, :, 2021 : PubMed

              




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    Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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