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Evaluation of missense and splicing in silico predictions tools and implementation of an efficient SNV prioritization NGS pipeline for molecular diagnosis of Myopathies and Muscular Dystrophies

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https://hal-amu.archives-ouvertes.fr/hal-02461436
Contributor : Valérie Gall Connect in order to contact the contributor
Submitted on : Thursday, January 30, 2020 - 4:34:45 PM
Last modification on : Tuesday, March 15, 2022 - 9:49:52 AM

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K. Yauy, David Baux, H. Pegeot, C. van Goethem, C. Mathieu, et al.. Evaluation of missense and splicing in silico predictions tools and implementation of an efficient SNV prioritization NGS pipeline for molecular diagnosis of Myopathies and Muscular Dystrophies. European Journal of Human Genetics, Nature Publishing Group, 2019, 27 (1), pp.339. ⟨10.1038/s41431-019-0404-7⟩. ⟨hal-02461436⟩

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