Varaico: Literature-Extracted Genetic Variants

Gene:POMC
Variant:p.K153del1
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POMC

NM_000939.4:p.K153del1

Associated Papers

Biallelic pathogenic variants in POMC can cause combined pituitary hormonal deficiency associated with severe obesity.

Vitellius G et al.

European Journal of Endocrinology, 2025

Obesity and Hyperphagia With Increased Defective ACTH: A Novel POMC Variant.

van der Valk ES et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

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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."