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资源简介:
UK10K_NEURO_FSZ REL-2013-04-20EGA dataset EGAD00001000615
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创建时间:
2021-04-23
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Table_1_The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review.DOCX
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Additional file 1: Table S1. of Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese
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ATP1A3 mutations and clinical features of patients with alternating hemiplegic of childhood.
F: female, M: male, y: year, h: hour, d: day, m: month, +: positive, −: negative, NA: not available, Patients A05603 and A05604 were two monozygous twins.
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