Varaico: Literature-Extracted Genetic Variants

Gene:POMC
Variant:p.P69delFs
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POMC

NM_000939.4:p.P69delFs

Associated Papers

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

Study of LEP, MRAP2 and POMC genes as potential causes of severe obesity in Brazilian patients.

da Fonseca ACP et al.

Eating and Weight Disorders : Ewd, 2021

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

Are low maternal estriol levels a predictor for pro-opiomelanocortin (POMC) deficiency caused by POMC mutation during pregnancy?

Aldemir O et al.

Prenatal Diagnosis, 2013

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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."