基于蛋白质结构的新型预测模型的开发,用于识别误解变异的RPE65相关遗传视网膜疾病 (IRD)

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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

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Jiawen Wu1, Zhongmou Sun2, Dao Wei Zhang1

  • 1Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, China.

PeerJ
|August 7, 2023
PubMed
概括

这项研究使用蛋白质结构开发了使用RPE65介导的遗传视网膜疾病 (IRD) 的新型预测模型,有助于精确诊断RPE65变体.

关键词:
遗传性视网膜疾病 (IRDs) 是一种遗传性视网膜疾病.利伯的先天性黄斑症 (LCA)机器学习 机器学习现象型 现象型 是一种表现型.预测模型的预测模型.在 RPE65 的情况下,它是 RPE65 的.视网膜色素炎 (RP) 是一种

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