Varaico: Literature-Extracted Genetic Variants

Gene:POMC
Variant:p.E224A
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POMC

NM_000939.4:p.E224A

Associated Papers

Functional characterization of all missense variants in LEPR, PCSK1, and POMC genes arising from single-nucleotide variants.

Shah BP et al.

Expert Review of Endocrinology & Metabolism, 2023

36864747 (PubMed )
Supplement: supplement_1.zip › supple_PPL › PPL_Variant_Supp4-POMC-MSH.xlsx › Sheet1

Identification of a functional human-unique 351-bp Alu insertion polymorphism associated with major depressive disorder in the 1p31.1 GWAS risk loci.

Liu W et al.

Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology, 2020

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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."