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Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?

Human genes have a variable length. Those having a coding sequence of extraordinary length and a high number of exons were almost impossible to sequence using the traditional Sanger-based gene-by-gene approach. High-throughput sequencing has partly overcome the size-related technical issues, enablin...

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Библиографические подробности
Опубликовано в: :J Neuromuscul Dis
Главные авторы: Savarese, Marco, Välipakka, Salla, Johari, Mridul, Hackman, Peter, Udd, Bjarne
Формат: Artigo
Язык:Inglês
Опубликовано: IOS Press 2020
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7369045/
https://ncbi.nlm.nih.gov/pubmed/32176652
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/JND-190459
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