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Biorxiv : the Preprint Server for Biology|February 17, 2023
Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2AAndrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, et al.
Nature Genetics|January 29, 2025
Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian conditionMitchell R Vollger, Jonas Korlach, Kiara C Eldred, et al.
Rare (Amsterdam, Netherlands)|October 18, 2024
Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataractsElizabeth E Blue, Samuel J Huang, Alyna Khan, et al.
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