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No major effect of the CDH1 c.2440-6C>G mutation on splicing detected in last exon-specific splicing minigene assay.
Genes Chromosomes Cancer. 2014 Sep;53(9):798-801. doi: 10.1002/gcc.22186. Epub 2014 May 12.
Genes Chromosomes Cancer. 2014.
PMID: 24817184
No abstract available.
Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes.
Grodecká L, Hujová P, Kramárek M, Kršjaková T, Kováčová T, Vondrášková K, Ravčuková B, Hrnčířová K, Souček P, Freiberger T.
Grodecká L, et al. Among authors: kovacova t.
Clin Immunol. 2017 Jul;180:33-44. doi: 10.1016/j.clim.2017.03.010. Epub 2017 Mar 27.
Clin Immunol. 2017.
PMID: 28359783
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High-throughput analysis revealed mutations' diverging effects on SMN1 exon 7 splicing.
Souček P, Réblová K, Kramárek M, Radová L, Grymová T, Hujová P, Kováčová T, Lexa M, Grodecká L, Freiberger T.
Souček P, et al. Among authors: kovacova t.
RNA Biol. 2019 Oct;16(10):1364-1376. doi: 10.1080/15476286.2019.1630796. Epub 2019 Jun 19.
RNA Biol. 2019.
PMID: 31213135
Free PMC article.
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Splicing Enhancers at Intron-Exon Borders Participate in Acceptor Splice Sites Recognition.
Kováčová T, Souček P, Hujová P, Freiberger T, Grodecká L.
Kováčová T, et al.
Int J Mol Sci. 2020 Sep 8;21(18):6553. doi: 10.3390/ijms21186553.
Int J Mol Sci. 2020.
PMID: 32911621
Free PMC article.
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Nucleotides in both donor and acceptor splice sites are responsible for choice in NAGNAG tandem splice sites.
Hujová P, Souček P, Radová L, Kramárek M, Kováčová T, Freiberger T.
Hujová P, et al. Among authors: kovacova t.
Cell Mol Life Sci. 2021 Nov;78(21-22):6979-6993. doi: 10.1007/s00018-021-03943-2. Epub 2021 Oct 1.
Cell Mol Life Sci. 2021.
PMID: 34596691
Free PMC article.
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Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation.
Grodecká L, Kováčová T, Kramárek M, Seneca S, Stouffs K, De Laet C, Majer F, Kršjaková T, Hujová P, Hrnčířová K, Souček P, Lissens W, Buratti E, Freiberger T.
Grodecká L, et al. Among authors: kovacova t.
J Mol Med (Berl). 2017 Mar;95(3):299-309. doi: 10.1007/s00109-016-1484-2. Epub 2016 Nov 12.
J Mol Med (Berl). 2017.
PMID: 27837218
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