Varaico: Literature-Extracted Genetic Variants

Gene:OPTC
Variant:p.L270L
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OPTC

NM_014359.4:p.L270L

Associated Papers

Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients.

Kumar A et al.

Molecular Vision, 2007

Novel mutations in the small leucine-rich repeat protein/proteoglycan (SLRP) genes in high myopia.

Majava M et al.

Human Mutation, 2007

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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."