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Mutation Report for: R597W_human-NLGN3

R597W_human-NLGN3
Gene_Locus|human-NLGN3
Mode of mutation|Natural mutant
Amino Acid change|R597W
Torpedo number|413
Summary|
    Comment|c.1789C>T, p.Arg597Trp Autism Spectrum Disorder (ASD) present in three affected cousins
    Kinetic parameters|none


    References:
      Title: Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment
      Quartier A, Courraud J, Thi Ha T, McGillivray G, Isidor B, Rose K, Drouot N, Savidan MA, Feger C and Piton A <6 more author(s)>
      Ref: Hum Mutat, 40:2021, 2019 : PubMed

              

      Title: Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
      Redin C, Gerard B, Lauer J, Herenger Y, Muller J, Quartier A, Masurel-Paulet A, Willems M, Lesca G and Piton A <37 more author(s)>
      Ref: Journal of Medical Genetics, 51:724, 2014 : PubMed

              




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