Varaico: Literature-Extracted Genetic Variants

Gene:MAFB
Variant:p.H131Q
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MAFB

NM_005461.5:p.H131Q

Associated Papers

Targeted Resequencing Identifies Novel MAFB Variants Associated With Nonsyndromic Cleft Lip With or Without Cleft Palate.

Zhang BH et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2025

Identification of functional non-coding variants associated with orofacial cleft.

Kumari P et al.

Biorxiv : the Preprint Server for Biology, 2025

Modification of histidine repeat proteins by inorganic polyphosphate.

Neville N et al.

Cell Reports, 2023

Association of genetic polymorphisms of VAX1, MAFB, and NTN1 with nonsyndromic cleft lip with or without cleft palate in Chinese population.

Peng L et al.

Molecular Genetics and Genomics : Mgg, 2022

The Mafb cleft-associated variant H131Q is not required for palatogenesis in the mouse.

Paul BJ et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2021

Nonsyndromic cleft lip with or without cleft palate and cancer: Evaluation of a possible common genetic background through the analysis of GWAS data.

Dunkhase E et al.

Genomics Data, 2016

Genetics of cleft lip and cleft palate.

Leslie EJ et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2013

Breakthroughs in the genetics of orofacial clefting.

Mangold E et al.

Trends in Molecular Medicine, 2011

Cleft lip and palate: understanding genetic and environmental influences.

Dixon MJ et al.

Nature Reviews. Genetics, 2011

A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.

Beaty TH et al.

Nature Genetics, 2010

[Transmission disequilibrium test for nonsyndromic cleft lip and palate and segment homeobox gene-1 gene].

Wu PA et al.

Zhonghua Kou Qiang Yi Xue Za Zhi = Zhonghua Kouqiang Yixue Zazhi = Chinese Journal of Stomatology, 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."