Varaico: Literature-Extracted Genetic Variants

Gene:MAOA
Variant:p.R45W
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MAOA

NM_000240.4:p.R45W

Associated Papers

Investigation of Electrostatic Effects on Enyzme Catalysis: Insights from Computational Simulations of Monoamine Oxidase A Pathological Variants Leading to the Brunner Syndrome.

Rajić M et al.

Journal of Chemical Information and Modeling, 2025

Biogenic Amine Metabolism and Its Genetic Variations in Autism Spectrum Disorder: A Comprehensive Overview.

Tabolacci C et al.

Biomolecules, 2025

Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother.

Minniti ML et al.

American Journal of Medical Genetics. Part A, 2024

Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.

Mastrangelo M et al.

Genes, 2023

36833190 (PubMed )
Supplement: genes-14-00263-s001.zip › Table_S1.xlsx › MAOA_Short_VarPathogenetic

Brunner syndrome caused by point mutation explained by multiscale simulation of enzyme reaction.

Prah A et al.

Scientific Reports, 2022

Exome Pool-Seq in neurodevelopmental disorders.

Popp B et al.

European Journal of Human Genetics : Ejhg, 2017

New insights into Brunner syndrome and potential for targeted therapy.

Palmer EE et al.

Clinical Genetics, 2016

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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."