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Updated: Jun 5, 2026

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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开发心脏瘤功能基因组学平台,使人类TNNT2变种的可扩展查询成为可能

Anthony M Pettinato1, Feria A Ladha1, David J Mellert2

  • 1University of Connecticut Health Center (A.M.P., F.A.L., R.R., J.T.H.).

Circulation
|October 7, 2020
PubMed
概括

致病性TNNT2变体会影响心肌收缩,导致心肌缩或扩张性心肌病. 这项研究开发了评估变异效应的新方法,改善了疾病风险预测和对心力衰竭的理解.

关键词:
心肌疾病基因组学多能干细胞其他类型组织工程热素T

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