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- 2021
-
Mark
Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant : Elucidating its Role in Collagen VI-related Myopathies
(
- Contribution to journal › Article
- 2014
-
Mark
Hereditary myopathy with early respiratory failure: occurrence in various populations
(
- Contribution to journal › Article