Varaico: Literature-Extracted Genetic Variants

Gene:THBS1
Variant:p.R1034C
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THBS1

NM_003246.4:p.R1034C

Associated Papers

Using Genetics for Glaucoma Screening and Risk Stratification: The LXXXII Edward Jackson Memorial Lecture.

Wiggs JL

American Journal of Ophthalmology, 2026

Analysis of early-onset glaucoma genes in primary congenital glaucoma patients residing in North India identifies an additional case with THBS1 Arg1034Cys.

Somarajan BI et al.

Ophthalmic Genetics, 2025

Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.

Reis LM et al.

Progress in Retinal and Eye Research, 2024

Genetic changes and testing associated with childhood glaucoma: A systematic review.

Kumar A et al.

Plos One, 2024

38386645 (PubMed )
Supplement: pone.0298883.s003.xlsx › Non-Case_Studies

Thrombospondin Mutations and Patients With Primary Congenital Glaucoma in a United States Population.

Boese EA et al.

Journal of Glaucoma, 2023

Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma.

Fu H et al.

The Journal of Clinical Investigation, 2022

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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."