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Mutation Report for: I679V_human-NLGN4Y

I679V_human-NLGN4Y
Gene_Locus|human-NLGN4Y
Mode of mutation|Natural mutant
Amino Acid change|I679V
Torpedo number|527
Summary|
Comment|:c.2035A>G I679V p.Ile679Val patient with autism, as well as his father with learning disabilities
Kinetic parameters|none


References:
    Title: Analysis of the neuroligin 4Y gene in patients with autism
    Yan J, Feng J, Schroer R, Li W, Skinner C, Schwartz CE, Cook EH, Jr., Sommer SS
    Ref: Psychiatr Genet, 18:204, 2008 : 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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