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Updated: Jul 12, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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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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人类基因组中的致病信号变体

Sneider Alexander Gutierrez Guarnizo1, Morgana K Kellogg1, Sarah C Miller1

  • 1Department of Cell Biology and Biochemistry, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA.

NAR genomics and bioinformatics
|October 20, 2023
PubMed
概括

研究人员确定了超过11000种与人类疾病相关的致病信号突变. 这些突变破坏了蛋白质的向和处理,为疾病机制提供了洞察力.

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