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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TUBB4B

Variant:p.R262W

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TUBB4B

NM_006088.6:p.R262W

hg38:chr9:137243002 C>T

Associated Papers

A novel missense TUBB4B variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss.

Cao LY et al.

Ophthalmic Genetics, 2025

41057290 (PubMed )

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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."