OMIX002005

1Summary
Title Molecular diagnosis of neurological genetic diseases in children
Description Clinical and laboratory tests were carried out for the patient, combine with the results of the next generation sequencing, the patient and the parent's genomic DNA was extracted from peripheral blood lymphocytes, suspected variant was validated by Sanger sequencing.
Organism Homo sapiens
Data Type Other Type of Genomic Data
Data Accessibility Controlled-access
BioProject PRJCA010728
Release Date 2022-10-08
Submitter Yang Tian (948938756@qq.com)
Organization Guangzhou Women and Children's Medical Center
Submission Date 2022-10-02
2Files & Download

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File ID File Title Number/Samples File Type File Size File Suffix Download
OMIX002005-01 Sanger sequencing chromatograms of the patient and the family with PIGW mutations 1 Other Type of Genomic Data 84.8 KB zip Controlled
OMIX002005-02 Sanger sequencing chromatograms of patients with PRRT2 mutations 1 Other Type of Genomic Data 103.3 KB rar Controlled
3Relevant Publications
Paper Title Journal Name Publish Time Accession Citing Type

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