Varaico: Literature-Extracted Genetic Variants

Gene:KIF11
Variant:p.P45fs
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KIF11

NM_004523.4:p.P45fs

Associated Papers

A Novel Frameshift Variant in KIF11 Causes Autosomal Dominant Familial Exudative Vitreoretinopathy in a Chinese Family.

Zhang J et al.

Genetic Testing and Molecular Biomarkers, 2025

Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly.

Karjosukarso DW et al.

European Journal of Human Genetics : Ejhg, 2018

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."