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ORIGINAL RESEARCH
NGS technology as a tool for the Wilson’s disease diagnosis and severity assessment
1 Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia
2 Petrovsky Russian Scientific Center for Surgery, Moscow, Russia
3 Moscow Scientific and Practical Center for Laboratory Research, Moscow, Russia
4 Ott Research Institute of Obstetrcis, Gynecology and Reproductive Medicine, St. Petersburg, Russia
5 Federal Scientific and Clinical Center for Infectious Diseases of the Federal Medical Biological Agency, St. Petersburg, Russia
6 State Scientific Center of the Russian Federation — Federal Medical Biophysical Center named after A. I. Burnazyan, Moscow, Russia
Correspondence should be addressed: Inna G. Tuluzanovskaya
Yelansky, 2, bld. 2, 119435, Moscow, Russia; ur.liam@77t_anni
Author contribution: Balashova MS — follow-up of patients, NGS data analysis, manuscript writing; Zhuchenko NA — literature review and analysis, manuscript writing; Tuluzanovskaya IG — follow-up of patients, literature analysis and processing, manuscript writing; Glotov OS — molecular genetic testing data preparation, manuscript editing; Senina OS — data entry, manuscript writing; Ignatova TM — literature analysis, manuscript editing; Asanov AYu — literature analysis, manuscript writing and editing.
Compliance with ethical standards: the study was approved by the Ethics Committee of the Sechenov University (protocol No. 07-23 dated 27 April 2023). All subjects or their legall representatives submitted the informed consent for participation in the study.
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