Varaico: Literature-Extracted Genetic Variants

Gene:ASMT
Variant:p.N17K
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ASMT

NM_001171038.2:p.N17K

Associated Papers

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

Tabolacci C et al.

Biomolecules, 2025

Polymorphisms in the ASMT and ADAMTS1 gene may increase litter size in goats.

Hu W et al.

Veterinary Medicine and Science, 2020

Congenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing.

Lin PC et al.

Molecular Genetics & Genomic Medicine, 2020

32160409 (PubMed )
Supplement: MGG3-8-e1220-s001.xlsx › ___1

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_1

Disruption of melatonin synthesis is associated with impaired 14-3-3 and miR-451 levels in patients with autism spectrum disorders.

Pagan C et al.

Scientific Reports, 2017

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

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

Abnormal melatonin synthesis in autism spectrum disorders.

Melke J et al.

Molecular Psychiatry, 2008

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."