Varaico: Literature-Extracted Genetic Variants

Gene:FOXC1
Variant:p.Q92*
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FOXC1

NM_001453.3:p.Q92*

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

Novel mutations of the PAX6, FOXC1, and PITX2 genes cause abnormal development of the iris in Vietnamese individuals.

Nguyen HH et al.

Molecular Vision, 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

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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."