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Updated: Sep 13, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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积极识别罕见疾病:使用电子病历诊断遗传性血管的经验教训

Xue Wang1, Huizhen Jiang2, Ziyang Huang2

  • 1Department of Allergy & Clinical Immunology, Peking Union Medical College, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, National Clinical Research Center for Immunologic Diseases, Beijing, China.

Orphanet journal of rare diseases
|July 29, 2025
PubMed
概括

这项研究建议使用电子病历 (EMR) 来主动识别患有遗传性血管 (HAE) 等罕见疾病的患者,加快诊断和改善护理.

关键词:
电子医疗记录电子医疗记录遗传性血管腺 遗传性血管腺 遗传性血管腺积极主动地进行诊断.罕见疾病是一种罕见的疾病.

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The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
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