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A commentary on “Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models”

Journal of Human Genetics volume 68, pages 793–794 (2023)Cite this article

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References

  1. Batool T, Irshad S, Riaz M, Mahmood Baig S, Nuernberg P, Hussain MS. Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models. J Hum Genet. 2023. https://doi.org/10.1038/s41588-019-0517-5.

  2. Choi Y, Sims GE, Murphy S, Miller JR, Chan AP. Predicting the functional effect of amino acid substitutions and indels. PLoS One. 2012;7:e46688.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Neu-Yilik G, Amthor B, Gehring NH, Bahri S, Paidassi H, Hentze MW, et al. Mechanism of escape from nonsense-mediated mRNA decay of human beta-globin transcripts with nonsense mutations in the first exon. RNA. 2011;17:843–54.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Miller JN, Pearce DA. Nonsense-mediated decay in genetic disease: friend or foe? Mutat Res Rev Mutat Res. 2014;762:52–64.

    Article  CAS  PubMed  Google Scholar 

  5. Kurosaki T, Popp MW, Maquat LE. Quality and quantity control of gene expression by nonsense-mediated mRNA decay. Nat Rev Mol Cell Biol. 2019;20:406–20.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Lindeboom RGH, Vermeulen M, Lehner B, Supek F. The impact of nonsense-mediated mRNA decay on genetic disease, gene editing and cancer immunotherapy. Nat Genet. 2019;51:1645–51.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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  1. Department of Bioinformatics, 01life Institute, Shenzhen, 518000, Guangdong, China

    Jiajie Pu

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  1. Jiajie Pu
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Correspondence to Jiajie Pu.

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Pu, J. A commentary on “Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models”. J Hum Genet 68, 793–794 (2023). https://doi.org/10.1038/s10038-023-01165-x

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  • DOI: https://doi.org/10.1038/s10038-023-01165-x

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