Associated Papers
Systematic phenotype and genotype characterization of Moebius syndrome.
Webb BD et al.
Genetics in Medicine Open, 2025
40662098 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_8
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_Supp3-POMC-OR.xlsx › Sheet1
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