TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype
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L. Villard | F. Molinari | S. Gorokhova | B. Chabrol | S. Sigaudy | P. Cacciagli | Florence Riccardi | M. Abaji | J. Mortreux | C. Mignon‐Ravix | Mario Abaji | Cécile Mignon‐Ravix