Varaico: Literature-Extracted Genetic Variants

Gene:LTBP2
Variant:p.R548*
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LTBP2

NM_000428.3:p.R548*

Associated Papers

A novel LTBP2 gene variant in a Turkish family with juvenile-onset open-angle glaucoma.

Bozkurt B et al.

Ophthalmic Genetics, 2024

Autosomal Dominant Weill-Marchesani-Like Syndrome in a Chinese Family due to Novel Haplotypic Mutations in LTBP2.

Chen J et al.

Ophthalmic Research, 2024

The Molecular Genetics of Marfan Syndrome.

Du Q et al.

International Journal of Medical Sciences, 2021

Screening of the LTBP2 gene in 214 Chinese sporadic CYP1B1-negative patients with primary congenital glaucoma.

Chen X et al.

Molecular Vision, 2016

LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.

Haji-Seyed-Javadi R et al.

Human Mutation, 2012

A Possible Role for LTBP2 in the Etiology of Primary Angle Closure Glaucoma.

Safari I et al.

Journal of Ophthalmic & Vision Research, 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."