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Updated: Jun 28, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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区域误解突变不耐受性的风景,从125,748个外体量化

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    bioRxiv : the preprint server for biology
    |April 22, 2024
    PubMed
    概括

    识别对误解变异不耐受的基因区域有助于解释遗传变异. 一个新的指标,错误的有害性指标 (MPC),改善了病原体变异的分类,特别是神经发育障碍.

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