Varaico: Literature-Extracted Genetic Variants

Gene:ASMT
Variant:p.G188Splc
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ASMT

NM_001171038.2:p.G188Splc

Associated Papers

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

Tabolacci C et al.

Biomolecules, 2025

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9

Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.

Prasad A et al.

Bmc Medical Genetics, 2018

Crystal structure and functional mapping of human ASMT, the last enzyme of the melatonin synthesis pathway.

Botros HG et al.

Journal of Pineal Research, 2013

Sequencing ASMT identifies rare mutations in Chinese Han patients with autism.

Wang L et al.

Plos One, 2013

Genetic and functional abnormalities of the melatonin biosynthesis pathway in patients with bipolar disorder.

Etain B et al.

Human Molecular Genetics, 2012

Genetic variations of the melatonin pathway in patients with attention-deficit and hyperactivity disorders.

Chaste P et al.

Journal of Pineal Research, 2011

Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability.

Pagan C et al.

Bmc Medical Genetics, 2011

Mutation screening of melatonin-related genes in patients with autism spectrum disorders.

Jonsson L et al.

Bmc Medical Genomics, 2010

Abnormal melatonin synthesis in autism spectrum disorders.

Melke J et al.

Molecular Psychiatry, 2008

Is ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populations.

Toma C et al.

Molecular Psychiatry, 2007

The possible interplay of synaptic and clock genes in autism spectrum disorders.

Bourgeron T

Cold Spring Harbor Symposia on Quantitative Biology, 2007

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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."