Varaico: Literature-Extracted Genetic Variants

Gene:IFT52
Variant:p.I232_M233delins
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IFT52

NM_016004.5:p.I232_M233delins

Associated Papers

The emerging functions of intraflagellar transport 52 in ciliary transport and ciliopathies.

Udupa P et al.

Traffic (copenhagen, Denmark), 2024

Molecular basis underlying the ciliary defects caused by IFT52 variations found in skeletal ciliopathies.

Ishida Y et al.

Molecular Biology of the Cell, 2022

Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.

Dupont MA et al.

Human Molecular Genetics, 2019

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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."