Varaico: Literature-Extracted Genetic Variants

Gene:KIF22
Variant:p.P148S
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KIF22

NM_007317.3:p.P148S

Associated Papers

Involvement of kinesins in skeletal dysplasia: a review.

Bouchenafa R et al.

American Journal of Physiology. Cell Physiology, 2024

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

Spondyloepimetaphyseal dysplasia with joint laxity type 2: Aggregating the literature and reporting on the life of a 66-year-old man.

Beke A et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2023

Pathogenic mutations in the chromokinesin KIF22 disrupt anaphase chromosome segregation.

Thompson AF et al.

Elife, 2022

Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.

Min BJ et al.

American Journal of Human Genetics, 2011

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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."