Varaico: Literature-Extracted Genetic Variants

Gene:FOXC1
Variant:p.R127C
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FOXC1

NM_001453.3:p.R127C

Associated Papers

Whole-exome screening for primary congenital glaucoma in Lebanon.

Makhoul NJ et al.

Ophthalmic Genetics, 2023

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

34809627 (PubMed )
Supplement: 12920_2021_1130_MOESM1_ESM.xlsx › ARS

Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.

Bizzari S et al.

Genes, 2021

34680914 (PubMed )
Supplement: genes-12-01518-s001.zip › SupplementaryTableS2_26-09-2021.xlsx › CTGA-unique_variants

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 Mutation in FOXC1 in a Lebanese Family with Congenital Heart Disease and Anterior Segment Dysgenesis: Potential Roles for NFATC1 and DPT in the Phenotypic Variations.

Khalil A et al.

Frontiers in Cardiovascular Medicine, 2017

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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."