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Mutation Report for: E113Rfs_human-PGAP1

E113Rfs_human-PGAP1
Gene_Locus|human-PGAP1
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.E113Rfs Glu113Argfs c.334_335InsA one base pair insertion leading to a frame shift (named A112Afs in the publication) compound heterozygote with a splice site mutation leading to exon 10 skipping IVS
    Kinetic parameters|none


    References:
      Title: Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review
      Kettwig M, Elpeleg O, Wegener E, Dreha-Kulaczewski S, Henneke M, Gartner J, Huppke P
      Ref: BMC Neurol, 16:74, 2016 : PubMed

              




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