Associated Papers
Challenging the recessive paradigm of Mahvash disease: heterozygous phenotypes from a novel splice-site variant.
Bugallo FM et al.
Archives of Endocrinology and Metabolism, 2026
The Glucagon Receptor Is Expressed in the Frontal Cortex and Impaired Signaling Associates With Cognitive Decline.
Kjeldsen SAS et al.
Journal of the Endocrine Society, 2025
Determinants of plasma levels of proglucagon and the metabolic impact of glucagon receptor signalling: a UK Biobank study.
Winther-Sørensen M et al.
Diabetologia, 2024
Gastrointestinal: Pancreatic NETs with GCGR heterozygous mutation: Mahvash disease.
Deng W et al.
Journal of Gastroenterology and Hepatology, 2023
Molecular and in vivo phenotyping of missense variants of the human glucagon receptor.
van der Velden WJC et al.
The Journal of Biological Chemistry, 2022
34801547 (PubMed )
Supplement: mmc1.pdf
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