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Updated: Jun 28, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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与罕见疾病遗传检测相关的耻辱感 - - 原因和建议

Gareth Baynam1,2,3, Roy Gomez4, Ritu Jain5,6

  • 1Undiagnosed Diseases Program -WA, Genetic Services of WA, King Edward Memorial Hospital, Subiaco, WA, Australia.

Frontiers in genetics
|April 19, 2024
PubMed
概括

耻辱感显著影响生活在罕见遗传疾病 (RDs) 的人及其家人,影响生活质量和护理. 需要更多关于耻辱的研究.

关键词:
诊断 诊断 诊断 诊断 诊断 诊断基因查 基因查 基因查基因检测 基因检测是指基因检测.孤儿疾病是一种孤儿疾病.罕见的疾病 罕见的疾病污名 污名 污名 污名

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