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30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

Tandem repeats represent one of the most abundant class of variations in human genomes, which are polymorphic by nature and become highly unstable in a length-dependent manner. The expansion of repeat length across generations is a well-established process that results in human disorders mainly affe...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Depienne, Christel, Mandel, Jean-Louis
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8205997/
https://ncbi.nlm.nih.gov/pubmed/33811808
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2021.03.011
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