Varaico: Literature-Extracted Genetic Variants

Gene:IFT81
Variant:p.D672fs
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IFT81

NM_014055.4:p.D672fs

Associated Papers

Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.

Barberán-Martínez P et al.

The Journal of Molecular Diagnostics : Jmd, 2026

STORM imaging reveals the spatial arrangement of transition zone components and IFT particles at the ciliary base in Tetrahymena.

Hazime KS et al.

Scientific Reports, 2021

Review: Intraflagellar transport proteins in the retina.

Kannabiran C

Molecular Vision, 2020

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

Perrault I et al.

Journal of Medical Genetics, 2015

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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."