Varaico: Literature-Extracted Genetic Variants

Gene:LUM
Variant:p.L199P
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LUM

NM_002345.4:p.L199P

Associated Papers

Sequence features, structure, ligand interaction, and diseases in small leucine rich repeat proteoglycans.

Matsushima N et al.

Journal of Cell Communication and Signaling, 2021

[Regulation of bFGF and TGF-β2 in human scleral fibroblasts by the lumican gene mutation associated with myopia].

Lyu XT et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2021

Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variants.

Kenna KP et al.

Human Mutation, 2013

Association of the lumican gene functional 3'-UTR polymorphism with high myopia.

Lin HJ et al.

Investigative Ophthalmology & Visual Science, 2010

Absence of an association between lumican promoter variants and high myopia in the Korean population.

Park SH et al.

Ophthalmic Genetics, 0

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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."