Varaico: Literature-Extracted Genetic Variants

Gene:KIF11
Variant:p.Q955*
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KIF11

NM_004523.4:p.Q955*

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

Genome-Wide Insights Into the Genes and Pathways Shaping Human Foveal Development: Redefining the Genetic Landscape of Foveal Hypoplasia.

Hunt C et al.

Investigative Ophthalmology & Visual Science, 2025

40923693 (PubMed )
Supplement: iovs-66-12-22_s002.xlsx › ST7_Systemic_Disease

Identification of a novel mutation in KIF11 with functional analysis in a cohort of 516 familial patients with exudative vitreoretinopathy.

Wang K et al.

Molecular Vision, 2021

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

Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis.

Li JK et al.

Scientific Reports, 2016

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."