Varaico: Literature-Extracted Genetic Variants

Gene:POMC
Variant:p.E206*
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POMC

NM_000939.4:p.E206*

Associated Papers

Characterization of prevalent genetic variants in the Estonian Biobank body-mass index GWAS.

Abner E et al.

Nature Communications, 2025

Molecular Genetic Architecture of Morbid Obesity in Russian Children.

Minniakhmetov IR et al.

Biomedicines, 2025

Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.

Horbacz M et al.

Frontiers in Medicine, 2025

41210864 (PubMed )
Supplement: Table_5.XLSX › Supplementary_Table_5

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.

Shchubelka K et al.

Journal of Neurodevelopmental Disorders, 2024

38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Undiagnosed

Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder.

Mušálková D et al.

Genes, Brain, and Behavior, 2024

Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Wang T et al.

Ebiomedicine, 2022

35665681 (PubMed )
Supplement: mmc26.xlsx › Sheet1

A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy.

Michelini S et al.

Journal of Personalized Medicine, 2022

Heterozygous Genetic Variants in Autosomal Recessive Genes of the Leptin-Melanocortin Signalling Pathway Are Associated With the Development of Childhood Obesity.

Šket R et al.

Frontiers in Endocrinology, 2022

35574020 (PubMed )
Supplement: DataSheet_1.pdf

Melanocortin 4 Receptor Pathway Dysfunction in Obesity: Patient Stratification Aimed at MC4R Agonist Treatment.

Ayers KL et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

29726959 (PubMed )
Supplement: jc.2018-00258.sd1.pdf

[Genetic variations in energy balance regulation].

Pankov IuA

Biomeditsinskaia Khimiia, 0

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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."