Varaico: Literature-Extracted Genetic Variants

Gene:POMC
Variant:p.R145fs
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POMC

NM_000939.4:p.R145fs

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

Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use.

Le Collen L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make.

Çetinkaya S et al.

Journal of Clinical Research in Pediatric Endocrinology, 2018

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