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Functional characterization of the PMM2 p.Arg238His variant supports a modifier role in polycystic kidney disease

2026-06-08

Abstract excerpt

<title>Abstract</title> <p>Polycystic kidney disease (PKD) is a genetically heterogeneous disorder characterized by renal cysts and highly variable clinical severity. While pathogenic variants in PKD1 and PKD2 account for most cases, increasing evidence suggests that defects in protein maturation pathways, including N-glycosylation, may contribute to disease variability. PMM2 encodes phosphomannomutase-2, a key e...

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Literature Corpus work: f920f2c2-e84f-57bf-92b0-8b36429248ee
DOI: 10.21203/rs.3.rs-9424412/v1

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