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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K. Yauy
- Function : Author
David Baux
- Function : Author
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H. Pegeot
- Function : Author
C. van Goethem
- Function : Author
T. Guignard
- Function : Author
R. Juntas Morales
- Function : Author
D. Lacourt
- Function : Author
Martin Krahn
- Function : Author
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- IdHAL : martin-krahn
- ORCID : 0000-0002-1020-802X
- IdRef : 081551746
V. Lektokari
- Function : Author
G. Bonne
- Function : Author
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- ORCID : 0000-0002-2516-3258
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Sylvie Tuffery-Giraud
- Function : Author
- PersonId : 179259
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- ORCID : 0000-0001-9369-7780
- IdRef : 099102218