Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.S424A
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IRF6

NM_006147.4:p.S424A

Associated Papers

Causal Variations at IRF6 Gene Identified in Van der Woude Syndrome Pedigrees.

Yang CW et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2024

36866619 (PubMed )
Supplement: sj-docx-1-cpc-10.1177_10556656231157575.docx

The RIPK4-IRF6 signalling axis safeguards epidermal differentiation and barrier function.

Oberbeck N et al.

Nature, 2019

Disrupted IRF6-NME1/2 Complexes as a Cause of Cleft Lip/Palate.

Parada-Sanchez MT et al.

Journal of Dental Research, 2017

Receptor-interacting protein kinase 4 and interferon regulatory factor 6 function as a signaling axis to regulate keratinocyte differentiation.

Kwa MQ et al.

The Journal of Biological Chemistry, 2014

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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."