Varaico: Literature-Extracted Genetic Variants

Gene:FOXC1
Variant:p.E163*
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FOXC1

NM_001453.3:p.E163*

Associated Papers

Mutations of CYP1B1 and FOXC1 genes for childhood glaucoma in Japanese individuals.

Fuse N et al.

Japanese Journal of Ophthalmology, 2024

A Novel Mutation of FOXC1 (P136L) in an Axenfeld-Rieger Syndrome Patient With a Systematized Delusion of Jealousy: A Case Report and Literature Review.

Yoshino Y et al.

Molecular Genetics & Genomic Medicine, 2024

Axenfeld-Rieger syndrome: more than meets the eye.

Reis LM et al.

Journal of Medical Genetics, 2023

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

A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome.

Wang R et al.

Bmc Medical Genomics, 2021

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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."