A novel de novo nfkbia missense mutation associated to ectodermal dysplasia with dysgammaglobulinemia

HIGHLIGHTS

• who: Chai Teng Chear et al. from the National Institutes of Health, Ministry of Health Malaysia, Setia Alam, Malaysia have published the paper: A Novel De Novo NFKBIA Missense Mutation Associated to Ectodermal Dysplasia with Dysgammaglobulinemia, in the Journal: Genes 2022, 13, 1900. of 19/Oct/2022
• what: To predict the impact of single-nucleotide variation on the phosphorylation site, the identified NFKBIA variant in this study (Ser32Cys) was analyzed using mutation impact on phosphorylation (MIMP) (http://mimp.baderlab.org/, accessed on 13 October 2021). The authors report a 17-month-old Malay boy who . . .
  

   

  

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