Varaico: Literature-Extracted Genetic Variants

Gene:GMCL2
Variant:p.L390L
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GMCL2

NM_001358008.2:p.L390L

Associated Papers

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

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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."