Varaico: Literature-Extracted Genetic Variants

Gene:FOXC2
Variant:p.H199insFs
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FOXC2

NM_005251.3:p.H199insFs

Associated Papers

Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations.

Missaglia S et al.

Genes, 2021

[Genetic analysis and clinical phenotype of a family with lymphedema-distichiasis syndrome].

Hu G et al.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2020

FOXC2 Disease Mutations Identified in Lymphedema Distichiasis Patients Impair Transcriptional Activity and Cell Proliferation.

Tavian D et al.

International Journal of Molecular Sciences, 2020

Human venous valve disease caused by mutations in FOXC2 and GJC2.

Lyons O et al.

The Journal of Experimental Medicine, 2017

28724617 (PubMed )
Supplement: JEM_20160875_sm.pdf

Early Mandibular Distraction to Relieve Robin Severe Airway Obstruction in Two Siblings with Lymphedema-Distichiasis Syndrome.

Papoff P et al.

Journal of Maxillofacial and Oral Surgery, 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."