Varaico: Literature-Extracted Genetic Variants

Gene:KIF3B
Variant:p.E250Q
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KIF3B

NM_004798.4:p.E250Q

Associated Papers

Characterization of the disease-causing mechanism of KIF3B mutations from ciliopathy patients.

Adams JM et al.

Frontiers in Molecular Biosciences, 2024

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.

Cogné B et al.

American Journal of Human Genetics, 2020

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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."