Varaico: Literature-Extracted Genetic Variants

Gene:IFT52
Variant:p.T186A
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IFT52

NM_016004.5:p.T186A

Associated Papers

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

Udupa P et al.

Traffic (copenhagen, Denmark), 2024

Review: Intraflagellar transport proteins in the retina.

Kannabiran C

Molecular Vision, 2020

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

Dupont MA et al.

Human Molecular Genetics, 2019

IFT52 as a Novel Candidate for Ciliopathies Involving Retinal Degeneration.

Chen X et al.

Investigative Ophthalmology & Visual Science, 2018

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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."