Varaico: Literature-Extracted Genetic Variants

Gene:POMC
Variant:p.E224D
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POMC

NM_000939.4:p.E224D

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

Nonsense-Mediated mRNA Decay Factor Functions in Human Health and Disease.

Sun L et al.

Biomedicines, 2023

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