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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXOSC6

Variant:p.T234I

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EXOSC6

NM_058219.3:p.T234I

hg38:chr16:70251200 G>A

Associated Papers

Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.

Zheng Y et al.

Brain : a Journal of Neurology, 2025

39423307 (PubMed )

Supplement: awae324_supplementary_data.zip › brain-2024-01629-File014.pdf

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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."