Varaico: Literature-Extracted Genetic Variants

Gene:MAOA
Variant:p.S250insFs
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MAOA

NM_000240.4:p.S250insFs

Associated Papers

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

New insights into Brunner syndrome and potential for targeted therapy.

Palmer EE et al.

Clinical Genetics, 2016

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

Grozeva D et al.

Human Mutation, 2015

26350204 (PubMed )
Supplement: HUMU-36-1197-s001.pdf
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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."