Varaico: Literature-Extracted Genetic Variants

Gene:IFT43
Variant:p.E34K
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IFT43

NM_001102564.3:p.E34K

Associated Papers

Ift43 Controls the Ciliary Levels of Gli2 and Gli3.

Stuck MW et al.

Biorxiv : the Preprint Server for Biology, 2026

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3

A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.

Munir A et al.

Bmc Ophthalmology, 2024

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

Review: Intraflagellar transport proteins in the retina.

Kannabiran C

Molecular Vision, 2020

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

Biswas P et al.

Human Molecular Genetics, 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."