Associated Papers
The genetics of monogenic intestinal epithelial disorders.
Babcock SJ et al.
Human Genetics, 2023
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_Supp1-PCSK1.xlsx › Sheet1
Rare Heterozygous PCSK1 Variants in Human Obesity: The Contribution of the p.Y181H Variant and a Literature Review.
Van Dijck E et al.
Genes, 2022
The G209R mutant mouse as a model for human PCSK1 polyendocrinopathy.
Shakya M et al.
Endocrinology, 2022
Modulation of PC1/3 activity by a rare double-site homozygous mutation.
Ni Y et al.
Frontiers in Pediatrics, 2022
Novel Homozygous Inactivating Mutation in the PCSK1 Gene in an Infant with Congenital Malabsorptive Diarrhea.
Aerts L et al.
Genes, 2021
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