引起轻度x -连锁锥杆营养不良和近视的新型无义RPGR变异的鉴定

K. Kamenarova, S. Cherninkova, K. Mihova, Rosen Georgiev, Yana Nikolaeva, R. Kaneva
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Identification of Novel Nonsense RPGR Variant Causing Mild X-Linked Cone-Rod Dystrophy and Myopia
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