Associated Papers
A novel homozygous TUB mutation associated with autosomal recessive retinitis pigmentosa in a consanguineous Chinese family.
Xu W et al.
Bmc Medical Genomics, 2023
36650547 (PubMed )
Supplement: 12920_2023_1430_MOESM1_ESM.pdf
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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