Varaico: Literature-Extracted Genetic Variants

Gene:AGBL1
Variant:p.C990S
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AGBL1

NM_001386094.1:p.C990S

Associated Papers

Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy.

Liu X et al.

Eye and Vision (london, England), 2021

Diseases of the corneal endothelium.

Jeang LJ et al.

Experimental Eye Research, 2021

Mutations of uncertain significance in heterozygous variants as a possible cause of severe short stature: a case report.

Mohammadian Khonsari N et al.

Molecular and Cellular Pediatrics, 2020

The Molecular Basis of Fuchs' Endothelial Corneal Dystrophy.

Zhang J et al.

Molecular Diagnosis & Therapy, 2019

REVIEW: Current understanding of the pathogenesis of Fuchs' endothelial corneal dystrophy.

Nanda GG et al.

Molecular Vision, 2019

Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4.

Riazuddin SA et al.

American Journal of Human Genetics, 2013

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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."