Varaico: Literature-Extracted Genetic Variants

Gene:ASMT
Variant:p.E61Q
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ASMT

NM_001171038.2:p.E61Q

Associated Papers

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

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

Etain B et al.

Human Molecular Genetics, 2012

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

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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."