相关实验视频

Updated: Jun 20, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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缺失的环节:ARID1B的非截断变体导致了由于蛋白质聚合而导致的棺材-西里斯综合征

Elisabeth Bosch1, Esther Güse1, Philipp Kirchner1

  • 1Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054, Erlangen, Germany.

Human genetics
|July 19, 2024
PubMed
概括

这项研究阐明了ARID1B变异在Coffin-Siris综合征 (CSS) 中的致病性. 非截断变体导致蛋白质聚合,支持它们在CSS中的作用并帮助遗传诊断.

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相关概念视频

Translation01:31

Translation

Lesson: Translation
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RNA Splicing01:32

RNA Splicing

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RNA Editing02:23

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