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Pancreatic cancer encompasses various types, with pancreatic adenocarcinoma being the most common, typically associated with a poor prognosis and a five-year survival rate of only 5%

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The dramatic clinical effect of COL5A1 haploinsufficiency is surprising, given that collagen V is a quite minor constituent of collagen in skin, tendon, and ligament, but the clinical phenotype clearly supports an important function for collagen V in the maintenance of biomechanical integrity of collagenous matrix