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Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients

Recently, biallelic variants in the SORD gene were identified as causal for axonal hereditary neuropathy (HN). We ascertained the spectrum and frequency of SORD variants among a large cohort of Czech patients with unknown cause of HN. Exome sequencing data were analysed for SORD (58 patients). The p...

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Detalles Bibliográficos
Autores principales:	Laššuthová, P., Mazanec, R., Staněk, D., Sedláčková, L., Plevová, B., Haberlová, J., Seeman, P.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8055917/ https://www.ncbi.nlm.nih.gov/pubmed/33875678 http://dx.doi.org/10.1038/s41598-021-86857-0

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