Non‐random Distribution of Deleterious Mutations in the DNA and Protein‐binding Domains of IRF6 Are Associated with Van Der Woude Syndrome
Azeez A. Alade,Carmen J. Buxo‐Martinez,Peter A. Mossey,Lord J.J. Gowans,Mekonen A. Eshete,Wasiu L. Adeyemo,Thirona Naicker,Waheed A. Awotoye,Chinyere Adeleke,Tamara Busch, Ada M. Toraño,Carolina A. Bello, Mairim Soto,Marilyn Soto, Ricardo Ledesma, Myrellis Marquez,Jose F. Cordero,Lydia M. Lopez‐Del Valle, Maria I. Salcedo,Natalio Debs, Mary Li,Aline Petrin,Joy Olotu,Colleen Aldous,James Olutayo, Modupe O. Ogunlewe, Fekir Abate, Taye Hailu, Ibrahim Muhammed,Paul Gravem,Milliard Deribew,Mulualem Gesses,Mohaned Hassan,John Pape, Oluwole A. Adeniyan,Solomon Obiri‐Yeboah,Fareed K.N. Arthur,Alexander A. Oti,Olubukola Olatosi,Sara E. Miller,Peter Donkor,Martine M. Dunnwald,Mary L. Marazita,Adebowale A. Adeyemo,Jeffrey C. Murray,Azeez Butali Molecular Genetics & Genomic Medicine（2020）
关键词
Combined Annotation Dependent Depletion score,interferon regulatory factor 6,orofacial cleft,Popliteal pterygium syndrome,Van der Woude syndrome
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