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Mutation Report for: S450dup_human-SERAC1

S450dup_human-SERAC1
Gene_Locus|human-SERAC1
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.S450dup Ser450dup c.1349_1350insATC homozygous
    Kinetic parameters|none


    References:
      Title: Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing
      Theunissen TE, Sallevelt SC, Hellebrekers DM, de Koning B, Hendrickx AT, van den Bosch BJ, Kamps R, Schoonderwoerd K, Szklarczyk R and Smeets HJ <2 more author(s)>
      Ref: J Pediatr, 182:371, 2017 : PubMed

              




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