Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.
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C. Bönnemann | B. Eymard | T. Stojkovic | L. Michel | A. Ferreiro | M. Krahn | P. Petiot | A. Furby | P. Richard | J. Urtizberea | G. Solé | A. Lacour | Ying Hu | N. Streichenberger | R. McCarty | R. Menassa | V. Allamand | R. Villar-Quiles | A. Choumert | Léa Declerck | E. Campana-Salort | C. Gartioux | G. Gousse | A. de Becdelièvre | R. Foley | C. Métay | V. Jobic | S. Donkevoort | Matthieu Cerino