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Mutation Report for: V454_A457del_human-NLGN4X

V454_A457del_human-NLGN4X
Gene_Locus|human-NLGN4X
Mode of mutation|Natural mutant
Amino Acid change|V454_A457del
Torpedo number|405, 406, 407408
Summary|
    Comment|p.V109L (c.325G > C) p.Val109Leu
    Kinetic parameters|none


    References:
      Title: A Cluster of Autism-Associated Variants on X-Linked NLGN4X Functionally Resemble NLGN4Y
      Nguyen TA, Wu K, Pandey S, Lehr AW, Li Y, Bemben MA, Badger JD, 2nd, Lauzon JL, Wang T and Roche KW <4 more author(s)>
      Ref: Neuron, 106:759, 2020 : PubMed

              




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