Varaico: Literature-Extracted Genetic Variants

Gene:MRTFB
Variant:p.E109Q
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MRTFB

NM_001308142.2:p.E109Q

Associated Papers

De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.

Andrews JC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

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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."