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Updated: Jul 8, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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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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在心脏遗传学中是否使用疾病特异性患者报告结果 (PROM) 措施? 一个系统的审查

Saar van Pottelberghe1,2, Nina Kupper3, Esther Scheirlynck4,5

  • 1Clinical Sciences, Research Group Reproduction and Genetics, Centre for Medical Genetics, Universitair Ziekenhuis Brussel (UZ Brussel), Vrije Universiteit Brussel (VUB), Brussels, Belgium. saartje.vanpottelberghe@uzbrussel.be.

European journal of human genetics : EJHG
|December 14, 2023
PubMed
概括

在遗传性心脏病 (ICC) 中,患者报告的结果指标 (PROM) 往往是通用的,无法捕捉具体问题. 这次审查强调了高度的心理痛苦,并建议开发ICC特定的PROM,以改善以患者为中心的护理.

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