Varaico: Literature-Extracted Genetic Variants

Gene:MAFB
Variant:p.G147delFs
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MAFB

NM_005461.5:p.G147delFs

Associated Papers

Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects.

Park JG et al.

American Journal of Human Genetics, 2016

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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."