Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy
Vasily Smirnov,Olivier Grunewald,Jean Muller,Christina Zeitz,Carolin D. Obermaier,Aurore Devos,Valerie Pelletier,Beatrice Bocquet,Camille Andrieu,Jean-Louis Bacquet,Elodie Lebredonchel,Saddek Mohand-Said,Sabine Defoort-Dhellemmes,Jose-Alain Sahel,Helene Dollfus,Xavier Zanlonghi,Isabelle Audo,Isabelle Meunier,Elise Boulanger-Scemama,Claire-Marie Dhaenens International journal of molecular sciences（2021）
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TTLL5 gene,novel variants,large deletion,cone-rod dystrophy,early onset severe retinal dystrophy
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