Varaico: Literature-Extracted Genetic Variants

Gene:KIF11
Variant:p.P974P
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KIF11

NM_004523.4:p.P974P

Associated Papers

Insights into KIF11 pathogenesis in Microcephaly-Lymphedema-Chorioretinopathy syndrome from a lymphatic perspective.

Ogmen K et al.

Jci Insight, 2025

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation associated with KIF11 pathogenic variant: case report and genotype-phenotype correlation analysis.

Peng J et al.

Bmc Ophthalmology, 2025

A Novel Variant of the KIF11 Gene, c.2922G>T, Is Associated with Microcephaly by Affecting RNA Splicing.

Guo Z et al.

Developmental Neuroscience, 2022

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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."