Varaico: Literature-Extracted Genetic Variants

Gene:KIF11
Variant:p.S936*
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KIF11

NM_004523.4:p.S936*

Associated Papers

Mechanisms Underlying Rare Inherited Pediatric Retinal Vascular Diseases: FEVR, Norrie Disease, Persistent Fetal Vascular Syndrome.

Le V et al.

Cells, 2023

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

Spectrum of Variants in 389 Chinese Probands With Familial Exudative Vitreoretinopathy.

Li JK et al.

Investigative Ophthalmology & Visual Science, 2018

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

Li JK et al.

Scientific Reports, 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."