Varaico: Literature-Extracted Genetic Variants

Gene:KIF22
Variant:p.V475G
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KIF22

NM_007317.3:p.V475G

Associated Papers

Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment.

Dubail J et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2024

Pathogenic mutations in the chromokinesin KIF22 disrupt anaphase chromosome segregation.

Thompson AF et al.

Elife, 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."