Varaico: Literature-Extracted Genetic Variants

Gene:IFT140
Variant:p.A341T
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IFT140

NM_014714.4:p.A341T

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

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

Hull S et al.

Investigative Ophthalmology & Visual Science, 2016

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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."