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Updated: Sep 9, 2025

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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阿拉伯人口中罕见疾病的病原性变异:对查计划的影响

Ruchi Jain1, Sami Bizzari2, Sathishkumar Ramaswamy1

  • 1Dubai Health Genomic Medicine Center, Dubai Health, Dubai, United Arab Emirates.

Genetics in medicine open
|September 2, 2025
PubMed
概括

在阿拉伯人口中引起罕见疾病的遗传变异还未得到充分研究. 这项研究确定了关键的遗传变异和携带者率,以改善这一群体中衰退性疾病的查.

关键词:
血缘关系外体序列化遗传变异中东地区罕见的遗传疾病

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