Alanyl-tRNA Synthetase 1 Gene Variants in Hereditary Neuropathy: Genotype and Phenotype Overview

BACKGROUND AND OBJECTIVES: Our objective was to report 2 novel variants and to reclassify previously reported alanyl-tRNA synthetase 1 (AARS1) variants associated with hereditary neuropathy and to summarize the clinical features of a previously published cohort of patients. METHODS: We performed det...

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Detalles Bibliográficos
Autores principales: Setlere, Signe, Jurcenko, Marija, Gailite, Linda, Rots, Dmitrijs, Kenina, Viktorija
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9450682/
https://www.ncbi.nlm.nih.gov/pubmed/36092982
http://dx.doi.org/10.1212/NXG.0000000000200019

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9450682/
https://www.ncbi.nlm.nih.gov/pubmed/36092982
http://dx.doi.org/10.1212/NXG.0000000000200019

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