Related Experiment Video

Updated: Feb 26, 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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Genetic Spectrum and Phenotypic Variability in Chinese Patients with Multisystem Proteinopathy and Related Disorders

Xingyu Xia1,2,3, Xi Chen1,2, Yiming Sun1,2

  • 1Department of Neurology, Huashan Hospital, Fudan University, Shanghai, 200040, People's Republic of China.

Degenerative Neurological and Neuromuscular Disease
|February 25, 2026
PubMed
Abstract

Keywords:
ANXA11amyotrophic lateral sclerosisinclusion body myopathymultisystem proteinopathyneurodegeneration

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