Varaico: Literature-Extracted Genetic Variants

Gene:FOXC1
Variant:p.Y83H
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FOXC1

NM_001453.3:p.Y83H

Associated Papers

Next-Generation Sequencing in Congenital Eye Malformations: Identification of Genetic Causes and Comparison of Different Panel-Based Diagnostic Strategies.

Neuhann L et al.

International Journal of Molecular Sciences, 2025

Axenfeld-Rieger syndrome: more than meets the eye.

Reis LM et al.

Journal of Medical Genetics, 2023

35882526 (PubMed )
Supplement: jmg-2022-108646supp001.pdf

Heterogeneity of Axenfeld-Rieger Syndrome: Molecular and Clinical Findings in Chinese Patients.

Zhang Y et al.

Frontiers in Genetics, 2021

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