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Updated: Jul 1, 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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在儿科感觉神经神经听力损失中不确定意义的变异的生物信息学表征

Sloane Clay1, Adele Evans2, Regina Zambrano3

  • 1Department of Genetics, Louisiana State University Health Sciences Center, New Orleans, LA, United States.

Frontiers in pediatrics
|March 7, 2024
PubMed
概括

这项研究描述了与II型阿舍尔综合征相关的变异,发现一个受试者具有有害变异,另一个受试者具有非有害变异. 这项研究有助于解释儿科感官神经神经听力损失的复杂遗传结果.

关键词:
在ADGRV1中使用.艾舍尔综合征 (Usher Syndrome) 是一种疾病.一个VLGR1的VLGR1生物信息学是一种生物信息学.儿科听力损失 儿科听力损失不确定意义的变体.

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