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Updated: May 3, 2026

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在阿基因酶1缺乏症中,ACMG/AMP变异分类框架:对出生患病率估计和诊断的影响

Jessie M Cameron1,2, Mayowa Azeez Osundiji3,4, Rory J Olson3

  • 1Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.

Genetics in medicine open
|December 13, 2024
PubMed
概括

通过应用更新的指导方针,改善了阿基纳1 (ARG1) 缺乏变异的分类. 这项研究改进了对ARG1缺陷出生患病率的估计,有助于进行生殖载体查.

关键词:
在ARG1基因基因.阿尔金纳缺乏症是什么?出生率的流行率出生率的流行率过高的阿尔吉尼尼尼血.变体分类的变体分类变异性病原性变异性病原性

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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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