Varaico: Literature-Extracted Genetic Variants

Gene:POMC
Variant:p.Y77*
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POMC

NM_000939.4:p.Y77*

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

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

Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.

Baron M et al.

Nature Medicine, 2019

31700171 (PubMed )
Supplement: EMS84473-supplement-Supplementary_Tables.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.st1.xlsx › Supp_Table1B

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

Çetinkaya S et al.

Journal of Clinical Research in Pediatric Endocrinology, 2018

Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation.

Mendiratta MS et al.

International Journal of Pediatric Endocrinology, 2011

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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."