Varaico: Literature-Extracted Genetic Variants

Gene:MAF
Variant:p.K320E
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MAF

NM_005360.5:p.K320E

Associated Papers

Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing

Taylan Şekeroğlu H et al.

Turkish Journal of Ophthalmology, 2021

Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).

Javadiyan S et al.

Bmc Medical Genetics, 2017

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.

Niceta M et al.

American Journal of Human Genetics, 2015

Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genes.

Vanita V et al.

Molecular and Cellular Biochemistry, 2014

Molecular genetics of congenital nuclear cataract.

Deng H et al.

European Journal of Medical Genetics, 2014

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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."