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Описан новый фенотип редкого генетического заболевания с уникальным молекулярным механизмом

Специалисты Отдела функциональной геномики Медико-генетического научного центра имени академика Н.П. Бочкова описали семь пациентов с патогенными вариантами в гене TBCE, которые имеют новый, ранее неизвестный в литературе фенотип. Также ученые установили молекулярные причины его развития. Исследование опубликовано в журнале The Journal of Сlinical Endocrinology & Metabolism.

https://indicator.ru/medicine/opisan-novyi-fenotip-redkogo-geneticheskogo-zabolevaniya-s-unikalnym-molekulyarnym-mekhanizmom-25-12-2024.htm



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Описан новый фенотип редкого генетического заболевания с уникальным молекулярным механизмом

Специалисты Отдела функциональной геномики Медико-генетического научного центра имени академика Н.П. Бочкова описали семь пациентов с патогенными вариантами в гене TBCE, которые имеют новый, ранее неизвестный в литературе фенотип. Также ученые установили молекулярные причины его развития. Исследование опубликовано в журнале The Journal of Сlinical Endocrinology & Metabolism.

https://indicator.ru/medicine/opisan-novyi-fenotip-redkogo-geneticheskogo-zabolevaniya-s-unikalnym-molekulyarnym-mekhanizmom-25-12-2024.htm

BY Indicator.Ru




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