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_Supp3-POMC-OR.xlsx › Sheet1
Follow-up of five patients with FHHNC due to mutations in the Paracellin-1 gene.
Wolf MT et al.
Pediatric Nephrology (berlin, Germany), 2002
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