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
De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.
Castilla-Vallmanya L et al.
International Journal of Molecular Sciences, 2021
33557041 (PubMed )
Supplement: ijms-22-01549-s001.zip › Suppl_Files › Suppl_Table1_Patient_1_Variants.xlsx › Sheet1
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