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Updated: Jun 17, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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基因型-表型谱和因病原性ABHD12变异引起的PHARC综合征的相关性

Xicui Long1,2, Wenyu Xiong1,2, Xuegang Wang1,2

  • 1Department of Oto-Rhino-Laryngology, West China Hospital of Sichuan University, Chengdu, 610000, China.

BMC medical genomics
|August 9, 2024
PubMed
概括

研究人员在患有PHARC综合征的中国家庭中发现了新的ABHD12基因变异. 这项研究提高了对遗传原因和表型的理解,有助于对这种罕见疾病的诊断和咨询.

关键词:
在ABHD12中,ABHD12是指ABHD12的数字.耳植入器是一种耳植入器.基因型与表型的关联.这就是PHARC综合征.

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