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Updated: May 17, 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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巴基斯坦人群中涉及听力损失的基因中的反复和新型致病变体

Madiha Shadab1,2, Afif Ben-Mahmoud3, Luis Nicolás Martínez Völter4,5,6

  • 1Department of Zoology, Mirpur University of Science and Technology, Mirpur, 10250, Pakistan. madiha.shadab@hotmail.com.

Molecular diagnosis & therapy
|May 16, 2025
PubMed
概括

巴基斯坦家庭的基因测序确定了十个基因中的十种致病变体,揭示了新的突变,并扩大了对遗传性听力损失的理解. 这项研究强调了为改善诊断,人口特异性遗传研究的重要性.

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