Varaico: Literature-Extracted Genetic Variants

Gene:AGBL1
Variant:p.R794H
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AGBL1

NM_001386094.1:p.R794H

Associated Papers

From Genes to Disease: Reassessing LOXHD1 and AGBL1's Contribution to Fuchs' Dystrophy.

Tsedilina TR et al.

International Journal of Molecular Sciences, 2025

40244234 (PubMed )
Supplement: ijms-26-03343-s001.zip › Table_S5_variant_validator.xlsx › ____1

Analysis of candidate variants in a Chinese family with monozygotic twins with keratoconus: a case report.

Song C et al.

Ophthalmic Genetics, 2025

Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.

Zhu D et al.

International Journal of Molecular Sciences, 2023

36902444 (PubMed )
Supplement: ijms-24-05012-s001.zip › ijms-2152855-Supplementary_Table_S3_.xlsx › Sheet1

Systematic review of SLC4A11, ZEB1, LOXHD1, and AGBL1 variants in the development of Fuchs' endothelial corneal dystrophy.

Tsedilina TR et al.

Frontiers in Medicine, 2023

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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."