Varaico: Literature-Extracted Genetic Variants

Gene:MARK2
Variant:p.A80V
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MARK2

NM_001039469.3:p.A80V

Associated Papers

Identification of a de Novo MARK2 gene variant in a patient with autism spectrum disorder, epilepsy, and neurodevelopmental delay.

Sun X et al.

Neurogenetics, 2025

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.

Gong M et al.

American Journal of Human Genetics, 2024

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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."