Varaico: Literature-Extracted Genetic Variants

Gene:KIF11
Variant:p.I332V
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KIF11

NM_004523.4:p.I332V

Associated Papers

An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.

Wang P et al.

Translational Vision Science & Technology, 2019

31106028 (PubMed )
Supplement: tvst-08-02-12_s02.xlsx › FINAL-AD-AR-XL-ONE

KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy.

Hu H et al.

The British Journal of Ophthalmology, 2016

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