Varaico: Literature-Extracted Genetic Variants

Gene:KIF24
Variant:p.I486V
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KIF24

NM_194313.4:p.I486V

Associated Papers

Mutational analysis of consanguineous families and their targeted therapy against dwarfism.

Khan F et al.

Journal of Biomolecular Structure & Dynamics, 2025

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.

Reilly ML et al.

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