Varaico: Literature-Extracted Genetic Variants

Gene:FOXC1
Variant:p.L240delFs
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FOXC1

NM_001453.3:p.L240delFs

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

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

Degenerated hair follicle cells and partial loss of sebaceous and eccrine glands in a familial case of axenfeld-rieger syndrome: An emerging role for the FOXC1/NFATC1 genetic axis.

Hariri H et al.

Journal of Dermatological Science, 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."