Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.F375S
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IRF6

NM_006147.4:p.F375S

Associated Papers

Exploring the Role of IRF6 in Perinatal Arterial Ischemic Stroke: A Case of a Newborn with Craniofacial Malformations.

Perilli L et al.

Genes, 2025

Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial Cleft.

Zhu S et al.

Human Mutation, 2025

40918684 (PubMed )
Supplement: 6824122.f4.xlsx › Table_S4

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

Murali H et al.

Computational and Structural Biotechnology Journal, 2024

Screening of IRF6 Variants in Patients Subjected to Genetic Association Studies for Nonsyndromic Cleft Lip/Palate.

Velázquez-Aragón JA et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2021

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

Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing.

Khandelwal KD et al.

Journal of Dental Research, 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

IRF6 rs2235371 as a risk factor for non-syndromic cleft palate only among the Deutero-Malay race in Indonesia and its effect on the IRF6 mRNA expression level.

Nasroen SL et al.

Dental and Medical Problems, 0

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