This is a preview of subscription content, access via your institution
Subscribe to this journal
Receive 12 print issues and online access
$259.00 per year
only $21.58 per issue
Rent or buy this article
Prices vary by article type
Prices may be subject to local taxes which are calculated during checkout
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.
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.
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.
Miller JN, Pearce DA. Nonsense-mediated decay in genetic disease: friend or foe? Mutat Res Rev Mutat Res. 2014;762:52–64.
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.
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.
The author declares no competing interests.
Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
About this article
Cite this article
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