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Updated: Jan 11, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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阿戈·德尔菲关于红旗和临床门户的共识声明,用于诊断罕见疾病

Giuseppe Limongelli1,2, Fabio De Iaco3, Marta Mosca4

  • 1Department of Translational Medical Sciences, Inherited and Rare Cardiovascular Diseases, University of Campania 'Luigi Vanvitelli', Monaldi Hospital, Via Leonardo Bianchi, 80131, Naples, Italy. giuseppe.limongelli@unicampania.it.

Scientific reports
|November 11, 2025
PubMed
概括

罕见疾病的诊断可能是漫长的. 这项研究为医疗保健专业人员提供了指导方针,以更早地识别罕见疾病指标,改善患者的治疗结果并减少诊断延迟.

关键词:
达成共识声明 达成共识声明诊断的奥德赛 诊断的奥德赛早期诊断 早期诊断 早期诊断主要的护理是初级保健.罕见疾病是一种罕见的疾病.

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