Varaico: Literature-Extracted Genetic Variants

Gene:LUM
Variant:p.R330S
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LUM

NM_002345.4:p.R330S

Associated Papers

Corneal thinning and cornea guttata in patients with mutations in TGFB2.

Eghrari AO et al.

Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2020

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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."