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HRA007036
   HRA007036.xlsx
Title:
Whole exome sequencing of a patient with DPH1 mutations
Release date:
2024-03-31
Description:
A four-year old girl with global developmental delay and intellectual disability ,Other clinical features of the patient included sparse hair and craniofacial disorders such as scaphocephaly, prominent forehead, and micrognathia. Whole-exome sequencing was performed for the patient.The patient (proband) carried two mutated alleles of the DPH1 gene: a c.136C>T (p.Q46X) nonsense allele, also present in the mother, and a c.724G>C (p.E242Q) missense allele, also present in the father.
Data Accessibility:   
Controlled access Request Data
BioProject:
PRJCA024672
Study type:
Disease Study
Disease name:
diphthamide deficiency syndrome
Data Access Committee

For each controlled access study, there is a corresponding Data Access Committee(DAC) to determine the access permissions. Access to actual data files is not managed by NGDC.


DAC NO.:
HDAC003882
DAC name:
Developmental deficiencies DAC
Contact person:
Shi Yu
Email:
shiyu@hospital.cqmu.edu.cn
Description:
Reviewing and approving requests from external organizations to access and use controlled genetic sequencing data uploaded or published by our research team.
Individuals & samples
Files
Request Data
Submitter:   Shi Yu / shiyu@hospital.cqmu.edu.cn
Organization:   Children's Hospital of Chongqing Medical University
Submission date:   2024-03-26
Requests:   -