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Year | Number of Results |
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2021 | 1 |
2022 | 1 |
2023 | 2 |
2024 | 1 |
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Page 1
Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing.
Brain. 2024 Apr 4;147(4):1278-1293. doi: 10.1093/brain/awad383.
Brain. 2024.
PMID: 37956038
Splice-site variant in the RPS7 5'-UTR leads to a decrease in the mRNA level and development of Diamond-Blackfan anemia.
Skorodumova LO, Davydenko KA, Filatova AY, Skoblov MY, Kulemin NA, Khadzhieva MB, Zakharova ES, Gordeeva VD, Smetanina NS, Fedyushkina IV, Anastasevich LA, Larin SS.
Skorodumova LO, et al. Among authors: davydenko ka.
Clin Genet. 2023 Jan;103(1):93-96. doi: 10.1111/cge.14221. Epub 2022 Sep 12.
Clin Genet. 2023.
PMID: 36057918
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Clinical and Functional Characteristics of the E92K CFTR Gene Variant in the Russian and Turkish Population of People with Cystic Fibrosis.
Kondratyeva E, Melyanovskaya Y, Bulatenko N, Davydenko K, Filatova A, Efremova A, Skoblov M, Bukharova T, Sherman V, Voronkova A, Zhekaite E, Krasovskiy S, Amelina E, Petrova N, Polyakov A, Adyan T, Starinova M, Krasnova M, Vasilyev A, Makhnach O, Zinchenko R, Kutsev S, Gokdemir Y, Karadag B, Goldshtein D.
Kondratyeva E, et al. Among authors: davydenko k.
Int J Mol Sci. 2023 Mar 28;24(7):6351. doi: 10.3390/ijms24076351.
Int J Mol Sci. 2023.
PMID: 37047318
Free PMC article.
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Health Characteristics of Patients with Cystic Fibrosis whose Genotype Includes a Variant of the Nucleotide Sequence c.3140-16T>A and Functional Analysis of this Variant.
Kondratyeva E, Bukharova T, Efremova A, Melyanovskaya Y, Bulatenko N, Davydenko K, Filatova A, Skoblov M, Krasovsky S, Petrova N, Polyakov A, Adyan T, Amelina E, Shadrina V, Zhekaite E, Zodbinova A, Chernyak A, Zinchenko R, Kutsev S, Goldshtein D.
Kondratyeva E, et al. Among authors: davydenko k.
Genes (Basel). 2021 May 28;12(6):837. doi: 10.3390/genes12060837.
Genes (Basel). 2021.
PMID: 34071719
Free PMC article.
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