Varaico: Literature-Extracted Genetic Variants

Gene:MRTFB
Variant:p.A91P
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MRTFB

NM_001308142.2:p.A91P

Associated Papers

Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.

Mok JW et al.

Genome Research, 2025

Variant functional assessment in Drosophila by overexpression: what can we learn?

Her Y et al.

Genome, 2024

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."