Varaico: Literature-Extracted Genetic Variants

Gene:FOXC1
Variant:p.W152R
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FOXC1

NM_001453.3:p.W152R

Associated Papers

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

Genetic changes and testing associated with childhood glaucoma: A systematic review.

Kumar A et al.

Plos One, 2024

38386645 (PubMed )
Supplement: pone.0298883.s003.xlsx › Non-Case_Studies

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

A novel missense mutation of FOXC1 in an Axenfeld-Rieger syndrome patient with a congenital atrial septal defect and sublingual cyst: a case report and literature review.

Li K et al.

Bmc Medical Genomics, 2021

Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients.

Hernández-Martínez N et al.

Ophthalmic Genetics, 2018

A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.

Micheal S et al.

Plos One, 2016

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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."