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High diagnostic yield with algorithmic molecular approach on hereditary neuropathies
OBJECTIVE: Charcot-Marie-Tooth disease covers a group of inherited peripheral neuropathies. The aim of this study was to investigate the effect of targeted next-generation sequencing panels on the molecular diagnosis of Charcot-Marie-Tooth disease and its subtypes in routine clinical practice, and a...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Associação Médica Brasileira
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9983476/ https://www.ncbi.nlm.nih.gov/pubmed/36790232 http://dx.doi.org/10.1590/1806-9282.20220929 |