DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients
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U. Brinkmann | B. Gelb | B. Webb | Susanna Balcells | D. Grinberg | G. Evrony | R. Urreizti | E. Said | G. Plasencia | S. Balcells | L. Castilla-Vallmanya | Klaus Mayer | Neal A L Cody | Laura Castilla-Vallmanya | Guillem Plasencia | Neal A. L. Cody