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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL11A1

Variant:p.G908S

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COL11A1

NM_001854.4:p.G908S

hg38:chr1:102978740 C>T

Associated Papers

Heterozygous COL11A1 mutation associated with congenital cataract, lens subluxation, and zonular loss.

Lee GG et al.

Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2025

39542031 (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."