Varaico: Literature-Extracted Genetic Variants

Gene:KIF22
Variant:p.R49*
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KIF22

NM_007317.3:p.R49*

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

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