Varaico: Literature-Extracted Genetic Variants

Gene:LTBP2
Variant:p.Q1619*
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LTBP2

NM_000428.3:p.Q1619*

Associated Papers

LTBP2 variants in childhood glaucoma: Phenotypic expansion and clinical experience.

Verma A et al.

Molecular Vision, 2025

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

Bozkurt B et al.

Ophthalmic Genetics, 2024

38557215 (PubMed )
Supplement: supplement_1.pdf

Latent TGF-β binding protein-2 is essential for the development of ciliary zonule microfibrils.

Inoue T et al.

Human Molecular Genetics, 2014

Screening of the LTBP2 gene in a north Indian population with primary congenital glaucoma.

Mohanty K et al.

Molecular Vision, 2013

Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations.

Khan AO et al.

Molecular Vision, 2011

LTBP2 gene analysis in the GLC3C-linked family and 94 CYP1B1-negative cases with primary congenital glaucoma.

Sharafieh R 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."