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Mutation Report for: Y147X_human-NLGN2

Y147X_human-NLGN2
Gene_Locus|human-NLGN2
Mode of mutation|Natural mutant
Amino Acid change|Y147stop
Torpedo number|100
Summary|
Comment|c.441C>A p.(Tyr147Ter)
Kinetic parameters|none


References:
    Title: Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity
    Parente DJ, Garriga C, Baskin B, Douglas G, Cho MT, Araujo GC, Shinawi M
    Ref: American Journal of Medicine Genet A, 173:213, 2017 : PubMed

            




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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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