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Author

V. Danilchenko

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Open access Aug 2026

In vitro analysis of the effects of intronic variants c.940+3_940+6del, c.941-3C>G, and c.2389+5G>A in the LDLR gene on pre-mRNA splicing using a minigene assay

Functional in vitro analysis is a key tool for the molecular verification of intronic variants of uncertain clinical significance and, in conjunction with clinical data, supports the establishment of a definitive molecular diagnosis.

V. Danilchenko, D. Ivanoshchuk, O. Timoshchenko et al. · 0 citations
Open access Aug 2026

A novel variant c.1185_1196dup (p.(Gly396_Ser399dup)) in the SLC26A4 gene associated with recessive hearing loss

A novel variant was revealed – tandem duplication of twelve nucleotides (c.1185_1196dup) in exon 10 of the SLC26A4 gene, an in-frame insertion resulting in the inclusion of four additional amino acid residues Gly-Phe-Phe-Ser (p.(Gly396_Ser399dup) in a highly conserved region of the pendrin protein.

M. V. Zytsar, V. Danilchenko, A. Bondar et al. · 0 citations

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