Varaico: Literature-Extracted Genetic Variants

Gene:MARK4
Variant:p.D199A
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MARK4

NM_001199867.2:p.D199A

Associated Papers

Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism.

Samra S et al.

Hgg Advances, 2024

Cdk5 increases MARK4 activity and augments pathological tau accumulation and toxicity through tau phosphorylation at Ser262.

Saito T et al.

Human Molecular Genetics, 2019

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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."