Varaico: Literature-Extracted Genetic Variants

Gene:KIF11
Variant:p.K216insFs
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KIF11

NM_004523.4:p.K216insFs

Associated Papers

Phenotyping and genotyping FEVR: Molecular genetics, clinical and imaging features, and therapeutics.

Wang Y et al.

Progress in Retinal and Eye Research, 2025

Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel.

van der Ende S et al.

Investigative Ophthalmology & Visual Science, 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

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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."