遇见数据集

Homo sapiens Raw sequence reads. Homo sapiens

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NIAID Data Ecosystem2026-05-01 收录
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We describe a case of a Chinese male with congenital myasthenic syndrome presenting fluctuating limb weakness. Genetic testing revealed a heterozygous deletion mutation spanning exons 1-9 in the SLC5A7 gene

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2024-03-12
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