Varaico: Literature-Extracted Genetic Variants

Gene:MYCBP2
Variant:p.L3948Q
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MYCBP2

NM_015057.5:p.L3948Q

Associated Papers

First Report of a Familiar MYCBP2 Pathogenic Variant: Expanding the Knowledge of Neurodevelopmental Disorders.

Maleva Kostovska I et al.

Balkan Journal of Medical Genetics : Bjmg, 2025

Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.

AlAbdi L et al.

Brain : a Journal of Neurology, 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."