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Mutation Report for: L269P_human-NLGN1

Gene_Locushuman-NLGN1 Amino Acid changeL269P Torpedo number
Mode of mutationNatural
Kinetic parametersnone
    Commentp.Leu269Pro. Rare variant in autism
      Title: Functional significance of rare neuroligin 1 variants found in autism
      Nakanishi M, Nomura J, Ji X, Tamada K, Arai T, Takahashi E, Bucan M, Takumi T
      Ref: PLoS Genet, 13:e1006940, 2017 : PubMed


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