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Additional file 2 of Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing

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Additional file 2: Table S1. Clinical features of four individuals with disease-causing NOTCH2NLC repeat expansions; Table S2. Summary statistics of Nanopore Cas9-based enrichment sequencing; Table S3. PacBio HiFi-read-based repeat composition; Table S4. Ratio of LCLs with nuclear inclusions in F3 and F4 families; Table S5. Percent methylation score in the F2 family; Table S6. Differentially methylated regions identified by Methylkit.

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2021-11-13
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