Torpedo_number

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Torpedo_number Report for: 368

human-NLGN3
MutationKin.TypeEvaluation systemEffectReference
R451C natNatural mutation Mutation found in mother and 2 sibs, one with autism and the other with Asperger syndrom Jamain_2003_Nat.Genet_34_27
R451C natNatural mutationDefect in protein processing De Jaco_2005_Chem.Biol.Interact_157-158_371
R451C natNatural mutationDefect in protein processing De Jaco_2006_J.Biol.Chem_281_9667
R451C natNatural mutationDefect in protein processing Comoletti_2004_J.Neurosci_24_4889

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