Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.I251T
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MC4R

NM_005912.3:p.I251T

Associated Papers

Unexpected identification of obesity-associated mutations in LEP and MC4R genes in patients with anorexia nervosa.

Rajcsanyi LS et al.

Scientific Reports, 2024

38528040 (PubMed )
Supplement: 41598_2024_57517_MOESM1_ESM.pdf

Screening of non-syndromic early-onset child and adolescent obese patients in terms of LEP, LEPR, MC4R and POMC gene variants by next-generation sequencing.

Nalbantoğlu Ö et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2022

Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency.

Collet TH et al.

Molecular Metabolism, 2017

29031731 (PubMed )
Supplement: mmc2.xlsx › Table_S2

Eating Behavior, Low-Frequency Functional Mutations in the Melanocortin-4 Receptor (MC4R) Gene, and Outcomes of Bariatric Operations: A 6-Year Prospective Study.

Bonnefond A et al.

Diabetes Care, 2016

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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."