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Mutation Report for: Y524X_human-PGAP1

Y524X_human-PGAP1
Gene_Locus|human-PGAP1
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.Y524X Tyr524X c.1572T>A compound heterozygous with another nonsense variant c.1396C>T (p.Gln466X)
    Kinetic parameters|none


    References:
      Title: Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy
      Williams C, Jiang YH, Shashi V, Crimian R, Schoch K, Harper A, McHale D, Goldstein D, Petrovski S
      Ref: Clin Genet, 88:597, 2015 : PubMed

              




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