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Affymetrix SNP array data for an INAD patient

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NIAID Data Ecosystem2026-05-01 收录
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https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE233748
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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. Affymetrix SNP arrays were performed according to the manufacturer's directions on DNA extracted from the patient's peripheral blood sample.
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2023-06-02
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