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

Christel Depienne, Jean‐Louis Mandel

2021The American Journal of Human Genetics458 citationsDOIOpen Access PDF

Topics & Concepts

Identification (biology)Tandem repeatBiologyTrinucleotide repeat expansionComputational biologyGenomeExomeHuman genomeEvolutionary biologyGeneticsExome sequencingGeneAlleleMutationBotanyGenetic Neurodegenerative DiseasesMitochondrial Function and PathologyGenetics and Neurodevelopmental Disorders
30 years of repeat expansion disorders: What have we learned and what are the remaining challenges? | Litcius