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A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome

Tomohiro Kohmoto1, Takuya Naruto2, Haruka Kobayashi1

  • 1Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan; Student Lab, Faculty of Medicine, Tokushima University, Tokushima, Japan.

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