Varaico: Literature-Extracted Genetic Variants

Gene:IFT140
Variant:p.C329R
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IFT140

NM_014714.4:p.C329R

Associated Papers

Ciliopathy-Associated Missense Mutations in IFT140 are Tolerated by the Inherent Resilience of the IFT Machinery.

Beyer T et al.

Molecular & Cellular Proteomics : Mcp, 2025

Review: Intraflagellar transport proteins in the retina.

Kannabiran C

Molecular Vision, 2020

Mutations in human IFT140 cause non-syndromic retinal degeneration.

Xu M et al.

Human 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."