Varaico: Literature-Extracted Genetic Variants

Gene:FOXC1
Variant:p.E185del1
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FOXC1

NM_001453.3:p.E185del1

Associated Papers

Variants in FOXC1 and FOXC2 identified in patients with conotruncal heart defects.

Wei W et al.

Genomics, 2024

Analysis of pathogenic variants in 605 Chinese children with non-syndromic cardiac conotruncal defects based on targeted sequencing.

Ye J et al.

Genomics, 2023

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

Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma.

Huang X et al.

International Journal of Molecular Medicine, 2015

Diagnostic accuracy of next generation sequencing-based genetic research for primary glaucoma: A systematic review and meta-analysis.

Liu Y et al.

Survey of Ophthalmology, 0

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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."