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Updated: Jun 8, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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直接到达你的心脏的变种 - - 外基因组测序中的心脏遗传学二次发现

Kirsten Wenderholm1, Theresa Brunet1, Elisabeth Graf1

  • 1Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine and Health, Technical University of Munich, Germany.

Gene
|November 1, 2024
PubMed
概括

大约1.4%的被查的人携带致病性心脏遗传变异,往往没有被注意到. 意识到这些从外体测序中得到的二次发现对于预防心脏突然死亡至关重要.

关键词:
心脏遗传学 心脏遗传学外体序列的排序是如何进行的预防 预防 预防二次发现 二次发现突然的心脏病死亡.

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