Varaico: Literature-Extracted Genetic Variants

Gene:FOXC1
Variant:p.E229K
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FOXC1

NM_001453.3:p.E229K

Associated Papers

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

Kumar A et al.

Plos One, 2024

Whole-exome screening for primary congenital glaucoma in Lebanon.

Makhoul NJ et al.

Ophthalmic Genetics, 2023

Primary Congenital Glaucoma and the Involvement of CYP1B1.

Kaur K et al.

Middle East African Journal of Ophthalmology, 2011

Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.

Tanwar M et al.

Molecular Vision, 2009

CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability.

Campos-Mollo E et al.

Molecular Vision, 2009

Correlations of genotype with phenotype in Indian patients with primary congenital glaucoma.

Panicker SG et al.

Investigative Ophthalmology & Visual Science, 2004

Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.

Thuma TBT et al.

Survey of Ophthalmology, 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."