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Updated: Jun 19, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Published on: January 16, 2019

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洞察由GARS1病原型变体引起的表型变异性

Jesús Jiménez-Jiménez1,2, Irene Navarrete3, Inmaculada Azorín2,4

  • 1Neuromuscular Diseases Unit, Department of Neurology, Hospital Universitari i Politècnic La Fe, Valencia, Spain.

European journal of neurology
|July 25, 2024
PubMed
概括

在GARS1基因的致病变体可以导致远端遗传性运动神经病变 (dHMN) 与"分手"和感官问题,即使有正常的神经传导研究. 这突出了潜在的感觉神经元功能障碍,影响神经末.

关键词:
查尔科特玛丽牙病 牙疾病在 GARS1 基因中.轴心CMT的CMT是指轴心的CMT.皮肤活检皮肤活检分手手的分手手.

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