e.g., HRA000087; HRA000150
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HRA002969
   HRA002969.xlsx
Title:
A novel DES mutation in cardiomyopathy
Release date:
2022-09-03
Description:
We identified a novel DES mutation (p.E434K) in a Chinese family with cardiomyopathy and SCD. Our study not only provided a new case for the study of the relationship between DES mutations and hereditary cardiomyopathy, but also broadened the spectrum of DES mutations.
Data Accessibility:   
Controlled access Request Data
BioProject:
PRJCA011570
Study type:
Disease Study
Disease name:
cardiomyopathy
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.:
HDAC001721
DAC name:
Fan
Contact person:
Fan Liangliang
Email:
swfanliangliang@csu.edu.cn
Description:
Fan lab
Individuals & samples
Individual Accession
Individual Name
Gender
Sample Accession
Sample Name
Sample Description
Individual Accession
Individual Name
Gender
Sample Accession
Sample Name
Sample Description
HRI274818F1_probandfemaleHRS439824F1_probandWe enrolled a Chinese family where the affected individuals suffered from cardiomyopathy and sudden ...
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Files
Request Data
Run accession
Files
Experiment
Experiment title
Platform
Sample
Run accession
Files
Experiment
Experiment title
Platform
Sample
HRR745892HRR745892_f1.fastq.gz (4.40 GB)HRX539267Whole-exome sequencingIllumina HiSeq 4000HRS439824 (SAMC2309291)
HRR745892HRR745892_r2.fastq.gz (4.57 GB)HRX539267Whole-exome sequencingIllumina HiSeq 4000HRS439824 (SAMC2309291)
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Submitter:   Fan Liangliang / swfanliangliang@csu.edu.cn
Organization:   Central South University
Submission date:   2022-09-02
Requests:   -