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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MC4R

Variant:p.S270P

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MC4R

NM_005912.3:p.S270P

hg38:chr18:60371542 A>G

Associated Papers

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

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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."