Varaico: Literature-Extracted Genetic Variants

Gene:IFT74
Variant:p.L31delFs
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IFT74

NM_025103.4:p.L31delFs

Associated Papers

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.

Bakey Z et al.

Plos Genetics, 2023

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.

Bakey Z et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome.

Luo M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Case Report: Second Report of Joubert Syndrome Caused by Biallelic Variants in IFT74.

Zhongling K et al.

Frontiers in Genetics, 2021

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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."