Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.K58_A59Splc
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IRF6

NM_006147.4:p.K58_A59Splc

Associated Papers

Van der Woude syndrome and amniotic band sequence: A clue to a common genetic etiology? A case report.

Bossolani-Martins AL et al.

Genetics and Molecular Biology, 2025

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

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

Novel IRF6 mutations in Chinese Han families with Van der Woude syndrome.

Yu Y et al.

Molecular Genetics & Genomic Medicine, 2020

Genetic analysis of IRF6, a gene involved in craniofacial midline formation, in relation to pituitary and facial morphology of patients with idiopathic growth hormone deficiency.

Starink E et al.

Pituitary, 2017

Tooth agenesis and orofacial clefting: genetic brothers in arms?

Phan M et al.

Human Genetics, 2016

27699475 (PubMed )
Supplement: 439_2016_1733_MOESM4_ESM.xlsx › Table_Candidate_Gene_Mutations

Novel Mutations in the IRF6 Gene on the Background of Known Polymorphisms in Polish Patients With Orofacial Clefting.

Charzewska A et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2015

Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation.

Zechi-Ceide RM et al.

Clinical Dysmorphology, 2007

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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."