Varaico: Literature-Extracted Genetic Variants

Gene:TUBB4B
Variant:p.R390W
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TUBB4B

NM_006088.6:p.R390W

Associated Papers

A Spectrum of Severity of a Unifying Retinal Phenotype in TUBB4B-Associated Inherited Retinal Degeneration.

Zhang S et al.

Retinal Cases & Brief Reports, 2026

Genome-Wide Insights Into the Genes and Pathways Shaping Human Foveal Development: Redefining the Genetic Landscape of Foveal Hypoplasia.

Hunt C et al.

Investigative Ophthalmology & Visual Science, 2025

Mutation of beta-tubulin 4B gene (TUBB4B) causes autosomal dominant retinitis pigmentosa with sensorineural hearing loss in a multigenerational family.

Gregory-Evans CY et al.

Molecular Vision, 2025

Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes.

Bodenbender JP et al.

Scientific Reports, 2024

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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."