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Updated: Jul 20, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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超越遗传学:解读误解变异在CAD缺陷中的影响

Francisco Del Caño-Ochoa1, Bobby G Ng2, Antonio Rubio-Del-Campo1

  • 1Structure of Macromolecular Targets Unit, Instituto de Biomedicina de Valencia (IBV), CSIC, Valencia, Spain.

Journal of inherited metabolic disease
|August 4, 2023
PubMed
概括

在CAD中的病理变异,对于胺合成至关重要,导致发育性脑病变. 这项研究确定了新的致病变体,并使用结构分析来改善受影响个体的诊断和尿液治疗.

关键词:
发育性和性脑病变.它们是二基酸酶.是一种.功能验证试验试验.遗传代谢性疾病是一种先天性代谢性疾病.分子动力学分子动力学蛋白质的结构-功能.皮里米丁的新陈代谢治疗治疗治疗治疗治疗治疗尿素 尿素 尿素不确定意义的变种.在X射线晶体学研究中,

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