Varaico: Literature-Extracted Genetic Variants

Gene:MAF
Variant:p.R294Q
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MAF

NM_005360.5:p.R294Q

Associated Papers

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

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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."