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Mutation Report for: IVS9-2A>G_human-PGAP1

IVS9-2A>G_human-PGAP1
Gene_Locus|human-PGAP1
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|IVS9-2A>Gc.1090-2A>G siblings homozygote splice site mutation
    Kinetic parameters|none


    References:
      Title: Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline
      Granzow M, Paramasivam N, Hinderhofer K, Fischer C, Chotewutmontri S, Kaufmann L, Evers C, Kotzaeridou U, Rohrschneider K and Moog U <6 more author(s)>
      Ref: Mol Cell Probes, 29:323, 2015 : PubMed

              




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