Varaico: Literature-Extracted Genetic Variants

Gene:MAST1
Variant:p.G522E
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MAST1

NM_014975.3:p.G522E

Associated Papers

MAST Kinases' Function and Regulation: Insights from Structural Modeling and Disease Mutations.

Lemke MC et al.

Biomedicines, 2025

MAST1-related mega-corpus-callosum syndrome with central hypogonadism.

Sloboda N et al.

European Journal of Medical Genetics, 2023

Microtubule-Associated Serine/Threonine (MAST) Kinases in Development and Disease.

Rumpf M et al.

International Journal of Molecular Sciences, 2023

MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia.

Rodríguez-García ME et al.

American Journal of Medical Genetics. Part A, 2020

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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."