Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.R35C
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IRF6

NM_006147.4:p.R35C

Associated Papers

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

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: gim2012141x3.pdf
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