遇见数据集

Dataset related to article "Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients"

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Zenodo2021-04-07 更新2026-04-07 收录
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The dataset include: 1) clinical and genetic information on a small group of patients included in the study evaluated by the author (Moroni I) at Fondazione Besta; 2) VCF files of 45 Italian mutated patients analysed by the NGS panel whit 56 genes associated to skeletal muscle channelopathies.

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2021-04-07
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