Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS.
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Nakamura H, et al. Among authors: joki h.
J Hum Genet. 2020 May;65(5):475-480. doi: 10.1038/s10038-020-0733-y. Epub 2020 Feb 18.
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PMID: 32066831