Varaico: Literature-Extracted Genetic Variants

Gene:POMC
Variant:p.R145delFs
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POMC

NM_000939.4:p.R145delFs

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

Medical semiology of patients with monogenic obesity: A systematic review.

Renard E et al.

Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2024

38956946 (PubMed )
Supplement: supplement_1.pdf

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

Proopiomelanocortin deficiency diagnosed in infancy in two boys and a review of the known cases.

Graves LE et al.

Journal of Paediatrics and Child Health, 2021

Two Cases With an Early Presented Proopiomelanocortin Deficiency-A Long-Term Follow-Up and Systematic Literature Review.

Gregoric N et al.

Frontiers in Endocrinology, 2021

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

Çetinkaya S et al.

Journal of Clinical Research in Pediatric Endocrinology, 2018

The melanocortin system and insulin resistance in humans: insights from a patient with complete POMC deficiency and type 1 diabetes mellitus.

Aslan IR et al.

International Journal of Obesity (2005), 2014

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