Varaico: Literature-Extracted Genetic Variants

Gene:LMX1B
Variant:p.V265D
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LMX1B

NM_001174147.2:p.V265D

Associated Papers

Single-cell profiling of trabecular meshwork identifies mitochondrial dysfunction in a glaucoma model that is protected by vitamin B3 treatment.

Tolman N et al.

Biorxiv : the Preprint Server for Biology, 2025

Structural framework to address variant-gene relationship in primary open-angle glaucoma.

Singh N et al.

Vision Research, 2025

Rodent genetically modified models of glaucoma.

Loo Y et al.

Molecular Aspects of Medicine, 2024

Genetic background modifies vulnerability to glaucoma-related phenotypes in Lmx1b mutant mice.

Tolman NG et al.

Disease Models & Mechanisms, 2021

Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes.

Markitantova Y et al.

International Journal of Molecular Sciences, 2020

Update on the genetics of primary open-angle glaucoma.

Youngblood H et al.

Experimental Eye Research, 2019

A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci.

Choquet H et al.

Nature Communications, 2018

A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected].

Cross SH et al.

Plos Genetics, 2014

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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."