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Comment
. 2020 May;41(5):1072-1074.
doi: 10.1002/humu.23999.

Response to: Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene

Affiliations
Comment

Response to: Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene

Carmela Fusco et al. Hum Mutat. 2020 May.
No abstract available

Keywords: KRIT1; alternative splicing; cerebral cavernous malformations; in silico analysis.

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References

REFERENCES

    1. Battistini, S., & Ricci, C. (2020). Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene. Human Mutation, 40, 1-8.
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    1. Krawczak, M., Thomas, N. S., Hundrieser, B., Mort, M., Wittig, M., Hampe, J., & Cooper, D. N. (2007). Single base-pair substitutions in exon-intron junctions of human genes: Nature, distribution, and consequences for mRNA splicing. Human Mutation, 28(2), 150-158. https://doi.org/10.1002/humu.20400
    1. Liu, H. X., Zhang, M., & Krainer, A. R. (1998). Identification of functional exonic splicing enhancer motifs recognized by individual SR proteins. Genes and Development, 12(13), 1998-2012. https://doi.org/10.1101/gad.12.13.1998
    1. Nardella, G., Visci, G., Guarnieri, V., Castellana, S., Biagini, T., Bisceglia, L., … Fusco, C. (2018). A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion. Human Mutation, 39(12), 1885-1900. https://doi.org/10.1002/humu.23629

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