Double SMCHD1 variants in FSHD2: The synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2

Marlinde L. Van Den Boogaard, Richard J.F.L. Lemmers, Pilar Camaño, Patrick J. Van Der Vliet, Nicol Voermans, Baziel G.M. Van Engelen, Adolfo Lopez De Munain, Stephen J. Tapscott, Nienke Van Der Stoep, Rabi Tawil, Silvère M. Van Der Maarel

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23 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology