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Whole-genome sequencing in clinically diagnosed Charcot–Marie–Tooth disease undiagnosed by whole-exome sequencing

Whole-genome sequencing is the most comprehensive form of next-generation sequencing method. We aimed to assess the additional diagnostic yield of whole-genome sequencing in patients with clinically diagnosed Charcot–Marie–Tooth disease when compared with whole-exome sequencing, which has not been r...

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Detalles Bibliográficos
Autores principales:	Kim, Young-gon, Kwon, Hyemi, Park, Jong-ho, Nam, Soo Hyun, Ha, Changhee, Shin, Sunghwan, Heo, Won Young, Kim, Hye Jin, Chung, Ki Wha, Jang, Ja-Hyun, Kim, Jong-Won, Choi, Byung-Ok
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2023
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10174204/ https://www.ncbi.nlm.nih.gov/pubmed/37180992 http://dx.doi.org/10.1093/braincomms/fcad139

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