Response to: Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene
- PMID: 32285598
- DOI: 10.1002/humu.23999
Response to: Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene
Keywords: KRIT1; alternative splicing; cerebral cavernous malformations; in silico analysis.
Comment on
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Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations.Hum Mutat. 2019 Nov;40(11):e24-e36. doi: 10.1002/humu.23851. Hum Mutat. 2019. PMID: 31254430
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Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene.Hum Mutat. 2020 May;41(5):1069-1071. doi: 10.1002/humu.24000. Hum Mutat. 2020. PMID: 32285596 No abstract available.
References
REFERENCES
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- 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
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- 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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