Homo sapiens Raw sequence reads. Homo sapiens
收藏NIAID Data Ecosystem2026-03-13 收录
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Two patients with SMA-LED caused by DYNC1H1 mutations were reported, with an aim to explore the phenotypic and genetic spectrum of neuromuscular diseases caused by DYNC1H1 mutations by systematically reviewing previous relevant publications. The genotype-phenotype correlations of this gene mutation was further analyzed.
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2022-05-17
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