Varaico: Literature-Extracted Genetic Variants

Gene:MAF
Variant:p.P59R
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MAF

NM_005360.5:p.P59R

Associated Papers

Novel cataract-causing variant c.177dupC in c-MAF regulates the expression of crystallin genes for cell apoptosis via a mitochondria-dependent pathway.

Li L et al.

Molecular Genetics and Genomics : Mgg, 2023

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

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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."