Varaico: Literature-Extracted Genetic Variants

Gene:FOXC1
Variant:p.T100_L101Fs
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FOXC1

NM_001453.3:p.T100_L101Fs

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

PITX2-related Axenfeld-Rieger Syndrome with a Novel Pathogenic Variant (c.475_476delCT).

Park JE et al.

Annals of Laboratory Medicine, 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."