Varaico: Literature-Extracted Genetic Variants

Gene:FOXC1
Variant:p.C135Y
Back to variants list

FOXC1

NM_001453.3:p.C135Y

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

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

Structural basis for DNA recognition by FOXC2.

Chen X et al.

Nucleic Acids Research, 2019

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

Carmona S et al.

American Journal of Medical Genetics. Part A, 2017

Comparison of Bioinformatics Prediction, Molecular Modeling, and Functional Analyses of FOXC1 Mutations in Patients with Axenfeld-Rieger Syndrome.

Seifi M et al.

Human Mutation, 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

Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.

Tümer Z et al.

European Journal of Human Genetics : Ejhg, 2009

The transcription factor gene FOXC1 exhibits a limited role in primary congenital glaucoma.

Chakrabarti S et al.

Investigative Ophthalmology & Visual Science, 2009

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."