Varaico: Literature-Extracted Genetic Variants

Gene:FOXC1
Variant:p.P146fs
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FOXC1

NM_001453.3:p.P146fs

Associated Papers

Axenfeld-Rieger syndrome: more than meets the eye.

Reis LM et al.

Journal of Medical Genetics, 2023

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

Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1.

Ahmed MR et al.

Genes, 2022

Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient.

Carmona S et al.

American Journal of Medical Genetics. Part A, 2017

A Novel Mutation of FOXC1 (R127L) in an Axenfeld-Rieger Syndrome Family with Glaucoma and Multiple Congenital Heart Diseases.

Du RF et al.

Ophthalmic Genetics, 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."