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Affymetrix SNP array data for an INAD patient. 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/bioproject/PRJNA977698
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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. Overall design: 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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2023-05-30
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