Varaico: Literature-Extracted Genetic Variants

Gene:IFT43
Variant:p.M1K
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IFT43

NM_001102564.3:p.M1K

Associated Papers

Ift43 Controls the Ciliary Levels of Gli2 and Gli3.

Stuck MW et al.

Biorxiv : the Preprint Server for Biology, 2026

A mutation in IFT43 causes non-syndromic recessive retinal degeneration.

Biswas P et al.

Human Molecular Genetics, 2017

Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.

Duran I et al.

Cilia, 2017

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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."