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Mutation Report for: P514S_human-NLGN3

P514S_human-NLGN3
Gene_Locus|human-NLGN3
Mode of mutation|Natural mutant
Amino Acid change|P514S
Torpedo number|433
Summary|
    Comment|c.1540C>T, p.Pro514Ser, identified in two affected brothers
    Kinetic parameters|none


    References:
      Title: Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment
      Quartier A, Courraud J, Thi Ha T, McGillivray G, Isidor B, Rose K, Drouot N, Savidan MA, Feger C and Piton A <6 more author(s)>
      Ref: Hum Mutat, 40:2021, 2019 : PubMed

              




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