Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.F252L
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IRF6

NM_006147.4:p.F252L

Associated Papers

Genetic variant classification by predicted protein structure: A case study on IRF6.

Murali H et al.

Computational and Structural Biotechnology Journal, 2024

Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome.

Alade AA et al.

Molecular Genetics & Genomic Medicine, 2020

32558391 (PubMed )
Supplement: MGG3-8-e1355-s001.xlsx › Sheet2

Rapid functional analysis of computationally complex rare human IRF6 gene variants using a novel zebrafish model.

Li EB et al.

Plos Genetics, 2017

Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases.

Leslie EJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013

23154523 (PubMed )
Supplement: gim2012141x1.pdf

Novel IRF6 mutations in Chinese patients with Van der Woude syndrome.

Du X et al.

Journal of Dental Research, 2006

[Identification of three novel mutations of IRF6 in Chinese families with Van der Woude syndrome].

Du XY et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2006

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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."