Article

Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

2023-10-15

Abstract excerpt

RFC1 disease, caused by biallelic repeat expansion in RFC1 , is clinically heterogeneous in terms of age of onset, disease progression and phenotype. We investigated the role of the repeat size in influencing clinical variables in RFC1 disease. We also assessed the presence and role of meiotic and somatic instability of the repeat. In this study, we identified 553 patients carrying biallelic RFC1 expansions and me...

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Literature Corpus work: 5d1e1a6d-aeb5-5236-a58c-d0e96f833fdf
DOI: 10.1101/2023.10.15.23297048

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