Varaico: Literature-Extracted Genetic Variants

Gene:HNMT
Variant:p.Q30*
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HNMT

NM_006895.3:p.Q30*

Associated Papers

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

Tabolacci C et al.

Biomolecules, 2025

Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 locus Associated with Variable Expressivity of Neuropsychiatric Disorders.

Lintas C et al.

Genes, 2022

Adult male patient with severe intellectual disability caused by a homozygous mutation in the HNMT gene.

Verhoeven WMA et al.

Bmj Case Reports, 2020

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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."