Varaico: Literature-Extracted Genetic Variants

Gene:IFT70B
Variant:p.A375V
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IFT70B

NM_152517.3:p.A375V

Associated Papers

A conserved mechanism for the retrieval of polyubiquitinated proteins from cilia.

Lange SM et al.

Cell, 2025

Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease.

Getwan M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

A rare TTC30B variant is identified as a candidate for synpolydactyly in a Chinese pedigree.

Du Y et al.

Bone, 2019

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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."