Validation of “in silico” predictors for analyzing variants of uncertain significance in lysosomal disorders

IF 3.5 2区生物学 Q2 ENDOCRINOLOGY & METABOLISM Molecular genetics and metabolism Pub Date : 2025-02-01 Epub Date: 2025-01-30 DOI:10.1016/j.ymgme.2024.108640

Isidro Arevalo-Vargas , Irene Serrano Gonzalo , Sonia Roca-Esteve , Carlos Lahoz , Pilar Mozas , Pilar Giraldo

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在溶酶体疾病中分析不确定意义变异的“计算机”预测因子的验证

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来源期刊

Molecular genetics and metabolism 生物-生化与分子生物学

CiteScore

5.90

自引率

7.90%

发文量

621

审稿时长

34 days

期刊介绍： Molecular Genetics and Metabolism contributes to the understanding of the metabolic and molecular basis of disease. This peer reviewed journal publishes articles describing investigations that use the tools of biochemical genetics and molecular genetics for studies of normal and disease states in humans and animal models.

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