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Mutation Report for: W159X_human-ABHD12

Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
    Comment|Nonsense Heterozygous p.Trp159* c.477G>A Exon 4
    Kinetic parameters|none

      Title: Comprehensive Molecular Screening in Chinese Usher Syndrome Patients
      Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y
      Ref: Invest Ophthalmol Vis Sci, 59:1229, 2018 : PubMed


      Title: Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration
      Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, Perez-Carro R, Martin-Garrido E, Lopez-Molina MI, Blanco-Kelly F, Hoefsloot LH and Ayuso C <12 more author(s)>
      Ref: Ophthalmology, 121:1620, 2014 : PubMed


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