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Evaluation of the impact of variants in the SLC26A4 gene found in patients with hearing loss on splicing by minigene assay. / Данильченко, Валерия Юрьевна; Панина, Екатерина Алексеевна; Зыцарь, Марина Вячеславовна и др.

в: European journal of human genetics, Том 33, № Suppl. 1, EP04.017, 11.2025, стр. 186.

Результаты исследований: Научные публикации в периодических изданиях › тезисы › Рецензирование

Harvard

Данильченко, ВЮ, Панина, ЕА, Зыцарь, МВ, Орищенко, КЕ & Посух, ОЛ 2025, 'Evaluation of the impact of variants in the SLC26A4 gene found in patients with hearing loss on splicing by minigene assay', European journal of human genetics, Том. 33, № Suppl. 1, EP04.017, стр. 186. <https://www.nature.com/articles/s41431-025-01934-6.pdf>

APA

Данильченко, В. Ю., Панина, Е. А., Зыцарь, М. В., Орищенко, К. Е., & Посух, О. Л. (2025). Evaluation of the impact of variants in the SLC26A4 gene found in patients with hearing loss on splicing by minigene assay. European journal of human genetics, 33(Suppl. 1), 186. [EP04.017]. https://www.nature.com/articles/s41431-025-01934-6.pdf

Vancouver

Данильченко ВЮ, Панина ЕА, Зыцарь МВ, Орищенко КЕ, Посух ОЛ. Evaluation of the impact of variants in the SLC26A4 gene found in patients with hearing loss on splicing by minigene assay. European journal of human genetics. 2025 нояб.;33(Suppl. 1):186. EP04.017.

Author

Данильченко, Валерия Юрьевна ; Панина, Екатерина Алексеевна ; Зыцарь, Марина Вячеславовна и др. / Evaluation of the impact of variants in the SLC26A4 gene found in patients with hearing loss on splicing by minigene assay. в: European journal of human genetics. 2025 ; Том 33, № Suppl. 1. стр. 186.

BibTeX

@article{c7da7af6dd6346c3b87db98009761b77,
title = "Evaluation of the impact of variants in the SLC26A4 gene found in patients with hearing loss on splicing by minigene assay",
keywords = "SLC26A4, hearing loss, minigene assay, splicing variants",
author = "Данильченко, {Валерия Юрьевна} and Панина, {Екатерина Алексеевна} and Зыцарь, {Марина Вячеславовна} and Орищенко, {Константин Евгеньевич} and Посух, {Ольга Леонидовна}",
note = "Llinares-Burguet I, Sanoguera-Miralles L, Bueno-Mart{\'i}nez E, Esteban-Sanchez A, Romano-Medina D, Ramadane-Morchadi L, Garc{\'i}a-{\'A}lvarez A, P{\'e}rez-Segura P, Easton DF, Devilee P, Vreeswijk MPG, de la Hoya M, Velasco-Sampedro EA. Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 ATM Splice-Site Variants. Int J Mol Sci. 2026 Jan 12;27(2):765. doi: 10.3390/ijms27020765.; 58th European Society of Human Genetics (ESHG) Conference, ESHG ; Conference date: 24-05-2025 Through 27-05-2025",
year = "2025",
month = nov,
language = "English",
volume = "33",
pages = "186",
journal = "European journal of human genetics",
issn = "1018-4813",
publisher = "Nature Publishing Group",
number = "Suppl. 1",

}

RIS

TY - JOUR

T1 - Evaluation of the impact of variants in the SLC26A4 gene found in patients with hearing loss on splicing by minigene assay

AU - Данильченко, Валерия Юрьевна

AU - Панина, Екатерина Алексеевна

AU - Зыцарь, Марина Вячеславовна

AU - Орищенко, Константин Евгеньевич

AU - Посух, Ольга Леонидовна

N1 - Conference code: 58

PY - 2025/11

Y1 - 2025/11

KW - SLC26A4

KW - hearing loss

KW - minigene assay

KW - splicing variants

UR - https://www.webofscience.com/wos/woscc/full-record/WOS:001688659400217

M3 - Meeting Abstract

VL - 33

SP - 186

JO - European journal of human genetics

JF - European journal of human genetics

SN - 1018-4813

IS - Suppl. 1

M1 - EP04.017

T2 - 58th European Society of Human Genetics (ESHG) Conference

Y2 - 24 May 2025 through 27 May 2025

ER -

ID: 80915166