BAM files corresponding to PARN mutations identified in Hoyeraal-Hreidarsson syndrome patients
PARN sequences of Patients 1 and 2 carrying mutatoins as decribed in Benyelles et al., EMBO Molecular Medicine 2019)
- 2 samples
- DAC: EGAC00001001254
- Technology: Illumina HiSeq 2500
Committee that decid eof the data accession
For each dataset that requires access control, there is a corresponding Data Access Committee (DAC) who determine access permissions. Data access requests are reviewed by the relevant DAC, not by the EGA. If you need to request access to this data set, please contact: Genome dynamics in the immune system lab-Imagine contact person: Patrick Revy Email: patrick.revy@inserm.fr
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 |
|---|---|---|
| EGAS00001003623 | Other |