Search Results - "Curry, Grace E"
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Common single-base insertions in the VNTR of the carboxyl ester lipase (CEL) gene are benign and also likely to arise somatically in the exocrine pancreas
Published in Human molecular genetics (18-05-2024)“…Abstract The CEL gene encodes carboxyl ester lipase, a pancreatic digestive enzyme. CEL is extremely polymorphic due to a variable number tandem repeat (VNTR)…”
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Characterization of novel PNLIP variants in congenital pancreatic lipase deficiency
Published in Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] (01-12-2023)“…Studies of a rare homozygous missense mutation identified in two brothers diagnosed with congenital pancreatic lipase deficiency (CPLD) provided the first…”
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Exploring the enigmatic association between PNLIP variants and risk of chronic pancreatitis in a large Chinese cohort
Published in Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] (01-06-2024)“…Protease-sensitive PNLIP variants were recently associated with chronic pancreatitis (CP) in European populations. The pathological mechanism yet remains…”
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Journal Article