Varaico: Literature-Extracted Genetic Variants

Gene:IFT172
Variant:p.L1564P
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IFT172

NM_015662.3:p.L1564P

Associated Papers

Haploinsufficiency of intraflagellar transport protein 172 causes autism-like behavioral phenotypes in mice through BDNF.

Zheng N et al.

Journal of Advanced Research, 2025

Primary cilia-associated protein IFT172 in ciliopathies.

Zheng NX et al.

Frontiers in Cell and Developmental Biology, 2023

Roles for IFT172 and Primary Cilia in Cell Migration, Cell Division, and Neocortex Development.

Pruski M et al.

Frontiers in Cell and Developmental Biology, 2019

Ift172 conditional knock-out mice exhibit rapid retinal degeneration and protein trafficking defects.

Gupta PR et al.

Human Molecular Genetics, 2018

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.

Halbritter J et al.

American Journal of Human Genetics, 2013

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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."