Associated Papers
DYNC1H1 in Spinal Muscular Atrophy: Diagnostic Findings From Two Families and a Comprehensive Review of Its Role in Neuromuscular and Neurodevelopmental Disorders.
Namdari M et al.
Molecular Genetics & Genomic Medicine, 2025
Characterization of a PNLIP variant identified in Amish pediatric patients with congenital pancreatic lipase deficiency.
Curry GE et al.
Journal of Lipid Research, 2025
Modeling protease-sensitive human pancreatic lipase mutations in the mouse ortholog.
Hoffka G et al.
The Journal of Biological Chemistry, 2024
Exploring the enigmatic association between PNLIP variants and risk of chronic pancreatitis in a large Chinese cohort.
Cassidy BM et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2024
Characterization of novel PNLIP variants in congenital pancreatic lipase deficiency.
Lin J et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2023
Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis.
Masson E et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2023
Genetic Abnormalities in Pancreatitis: An Update on Diagnosis, Clinical Features, and Treatment.
Suzuki M et al.
Diagnostics (basel, Switzerland), 2020
Protease-Sensitive Pancreatic Lipase Variants Are Associated With Early Onset Chronic Pancreatitis.
Lasher D et al.
The American Journal of Gastroenterology, 2019
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