About file location

As the EGA is co-managed by the EMBL-EBI and CRG, files could be located in the UK and/or Spain, as indicated by their respective flags.

Alternatively, files could be located in one of the international Federated EGA nodes, as indicated next to the node's flag.
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Transcriptome analysis of human muscle/myofibers carrying the human nemaline myopathy type 6-associated KBTBD13-R408C variant.

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)

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Policy: NEM6_DAC_LUMC_Amsterdam_UMC

Access to this dataset is controlled by NEM6_DAC_LUMC_Amsterdam_UMC. Access to data will be granted to qualified investigators for appropriate use. Please contact this DAC to request data access.

Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS50000001678 Transcriptome Sequencing

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Quality Report
Located in
i
EGAF50000690300 fastq.gz 2.6 GB
EGAF50000690301 fastq.gz 2.7 GB
EGAF50000690302 fastq.gz 3.3 GB
EGAF50000690303 fastq.gz 3.4 GB
EGAF50000690304 fastq.gz 4.8 GB
EGAF50000690305 fastq.gz 4.8 GB
EGAF50000690306 fastq.gz 4.7 GB
EGAF50000690307 fastq.gz 5.0 GB
EGAF50000690308 fastq.gz 2.1 GB
EGAF50000690309 fastq.gz 2.2 GB
EGAF50000690310 fastq.gz 2.5 GB
EGAF50000690311 fastq.gz 2.4 GB
EGAF50000690312 fastq.gz 5.6 GB
EGAF50000690313 fastq.gz 5.8 GB
EGAF50000690314 fastq.gz 3.8 GB
EGAF50000690315 fastq.gz 3.9 GB
EGAF50000690316 fastq.gz 4.1 GB
EGAF50000690317 fastq.gz 4.2 GB
EGAF50000690318 fastq.gz 4.1 GB
EGAF50000690319 fastq.gz 4.1 GB
EGAF50000690320 fastq.gz 2.2 GB
EGAF50000690321 fastq.gz 2.2 GB
22 Files (80.6 GB)