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Series GSE233748 Query DataSets for GSE233748
Status Public on May 31, 2023
Title Affymetrix SNP array data for an INAD patient
Organism Homo sapiens
Experiment type Genome variation profiling by SNP array
Summary Infantile neuroaxonal dystrophy (INAD) is an ultra-rare early-onset autosomal recessive neurodegenerative disorder due to PLA2G6 variants.
Copy number analysis of SNP arrays was performed on one INAD patient sample.
Overall design Affymetrix SNP arrays were performed according to the manufacturer's directions on DNA extracted from the patient's peripheral blood sample.
Contributor(s) Lv Y, Qi F
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Submission date May 30, 2023
Last update date Jun 02, 2023
Contact name yongxue lv
Organization name Huzhou Maternity & Child Health Care Hospital
Street address No. 2 East Street
City Huzhou
ZIP/Postal code 313000
Country China
Platforms (1)
GPL18637 [CytoScan750K_Array] Affymetrix CytoScan 750K Array
Samples (1)
GSM7433953 Z.Y.W. INAD
BioProject PRJNA977698

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE233748_RAW.tar 145.8 Mb (http)(custom) TAR (of CEL, CYCHP)
Processed data provided as supplementary file

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