Associated Papers
The TUB variant impairs leptin sensitivity and AgRP neuronal response, leading to obesity.
Tong M et al.
Science Translational Medicine, 2026
Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium.
Ziccardi L et al.
International Journal of Molecular Sciences, 2022
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Cipriani V et al.
Genes, 2020
32340307 (PubMed )
Supplement: genes-11-00460-s001.pdf
A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity.
Borman AD et al.
Human Mutation, 2014
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