Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report

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作者：
Su Ling Young
Chloe M. Stanton
Benjamin J. Livesey
Joseph A. Marsh
Peter D. Cackett
机构：
[1] Princess Alexandra Eye Pavilion,Department of Ophthalmology
[2] NHS Lothian,Medical Research Council Human Genetics Unit
[3] University of Edinburgh,undefined
[4] Institute of Genetics and Cancer,undefined
[5] University of Edinburgh,undefined
来源：
BMC Ophthalmology | / 22卷
关键词：
Usher syndrome type IIA; Novel mutation; Pathogenicity; USH2A; Inherited retinal disease; Case report;
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