Varaico: Literature-Extracted Genetic Variants

Gene:FOXC2
Variant:p.Q444R
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FOXC2

NM_005251.3:p.Q444R

Associated Papers

Digenic Inheritance of a FOXC2 Mutation and Two PIEZO1 Mutations Underlies Congenital Lymphedema in a Multigeneration Family.

Mustacich DJ et al.

The American Journal of Medicine, 2022

Genetic insights into non-syndromic Tetralogy of Fallot.

Althali NJ et al.

Frontiers in Physiology, 2022

Effect of parental origin of damaging variants in pro-angiogenic genes on fetal growth in patients with congenital heart defects: Data and analyses.

Russell MW et al.

Data in Brief, 2019

FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function.

Tavian D et al.

Oncotarget, 2016

Functionally significant, rare transcription factor variants in tetralogy of Fallot.

Töpf A et al.

Plos One, 2014

Novel missense mutations in the FOXC2 gene alter transcriptional activity.

van Steensel MA et al.

Human Mutation, 2009

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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."