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Correlation of Phenotype–Genotype and Protein Structure in RYR1-Related Myopathy

INTRODUCTION: Next generation sequencing results in an explosive identification of rare variants of RYR1, making the correlation between phenotype and genotype complicated. We analyzed the data of 33 patients with RYR1-related myopathy, attempting to elucidate correlations between phenotype, genotyp...

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Detalles Bibliográficos
Autores principales:	Chang, Xingzhi, Wei, Risheng, Wei, Cuijie, Liu, Jieyu, Qin, Lun, Yan, Hui, Ma, Yinan, Wang, Zhaoxia, Xiong, Hui
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9178086/ https://www.ncbi.nlm.nih.gov/pubmed/35693006 http://dx.doi.org/10.3389/fneur.2022.870285

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