NEM6_DAC_LUMC_Amsterdam_UMC

Sequencing Analysis Support Core
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Dataset ID	Description	Technology	Samples
EGAD50000002408	This dataset contains mRNA-seq results from eleven samples from human donors, each sample being composed of 5-10 rebulked fiber type-specific myofibers. This sample set includes; 1) Three FT-I and three FT-IIa rebulked samples from control individuals 2) Three FT-I and two FT-IIa rebulked samples from NEM6 patients with a KBTBD13R408C variant (NP_001094832.1: p.Arg408Cys)	Illumina NovaSeq X	11