Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.Q17P
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IRF6

NM_006147.4:p.Q17P

Associated Papers

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

IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families.

Leslie EJ et al.

Clinical Genetics, 2016

Mutation screening of IRF6 among families with non-syndromic oral clefts and identification of two novel variants: review of the literature.

Salahshourifar I et al.

European Journal of Medical Genetics, 2012

Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done?

Jehee FS et al.

American Journal of Medical Genetics. Part A, 2009

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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."