Varaico: Literature-Extracted Genetic Variants

Gene:FOXC2
Variant:p.H199insFs
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FOXC2

NM_005251.3:p.H199insFs

Associated Papers

Genetic Mutations Associated with Pierre Robin Syndrome/Sequence: A Systematic Review.

Varadarajan S et al.

Molecular Syndromology, 2021

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

Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence.

Gordon CT et al.

Human Mutation, 2014

c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient.

Tanpaiboon P et al.

American Journal of Medical Genetics. Part A, 2010

Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene.

Bell R et al.

Human Genetics, 2001

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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."