Varaico: Literature-Extracted Genetic Variants

Gene:IFT52
Variant:p.L293fs
Back to variants list

IFT52

NM_016004.5:p.L293fs

Associated Papers

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

IFT52 as a Novel Candidate for Ciliopathies Involving Retinal Degeneration.

Chen X et al.

Investigative Ophthalmology & Visual Science, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."