Dataset related to article "Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients"
Authors/Creators
- 1. Fondazione IRCCS - Istituto Neurologico Carlo Besta di Milano
Description
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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Additional details
Related works
- Documents
- Journal article: 10.1016/j.nmd.2020.12.003 (DOI)