Varaico: Literature-Extracted Genetic Variants

Gene:LGR4
Variant:p.T755I
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LGR4

NM_018490.5:p.T755I

Associated Papers

LGR4/GPR48 inactivation leads to aniridia-genitourinary anomalies-mental retardation syndrome defects.

Yi T et al.

The Journal of Biological Chemistry, 2014

Lgr4/Gpr48 negatively regulates TLR2/4-associated pattern recognition and innate immunity by targeting CD14 expression.

Du B et al.

The Journal of Biological Chemistry, 2013

Lgr4 in ocular development and glaucoma.

Siwko S et al.

Journal of Ophthalmology, 2013

Deletion of G protein-coupled receptor 48 leads to ocular anterior segment dysgenesis (ASD) through down-regulation of Pitx2.

Weng J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2008

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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."