Varaico: Literature-Extracted Genetic Variants

Gene:IFT74
Variant:p.E285*
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IFT74

NM_025103.4:p.E285*

Associated Papers

Phenotypic and genotypic analysis of 11 fetal cases with Bardet-Biedl syndrome.

Yu QX et al.

Prenatal Diagnosis, 2024

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

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.

Zeng B et al.

Frontiers in Oncology, 2021

33889545 (PubMed )
Supplement: Table_5.XLSX › Sheet1

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."