Varaico: Literature-Extracted Genetic Variants

Gene:LTBP2
Variant:p.S338delFs
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LTBP2

NM_000428.3:p.S338delFs

Associated Papers

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

Verma A et al.

Molecular Vision, 2025

Identification and phenotypic analysis of novel LTBP2 mutations in a Chinese cohort with congenital ectopia lentis.

Liu L et al.

Molecular Vision, 2023

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."