Varaico: Literature-Extracted Genetic Variants

Gene:FOXC1
Variant:p.L86P
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FOXC1

NM_001453.3:p.L86P

Associated Papers

Axenfeld-Rieger Syndrome: From Zebrafish Models to Clinical Outcomes.

Bohnsack BL et al.

American Journal of Ophthalmology, 2026

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

Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome.

Fuse N et al.

Molecular Vision, 2007

Identification and analysis of a novel mutation in the FOXC1 forkhead domain.

Saleem RA et al.

Investigative Ophthalmology & Visual Science, 2003

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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."