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Mutation Report for: P89L_human-NLGN1

Gene_Locushuman-NLGN1 Amino Acid changeP89L Torpedo number39
Mode of mutationNatural
Kinetic parametersnone
Summary
Commentp.Pro89Leu c.C->T. Rare variant in autism. A pair of siblings affected with a non-syndromic autism (AU072904, AU072905)
References
    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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