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Article

Natural History and Clinicopathological Associations of TRPC6-Associated Podocytopathy

1 Oct 2024

Abstract excerpt

Key Points We conducted a clinical, genetic, and pathological analysis on 64 cases from 39 families with TRPC6-associated podocytopathy (TRPC6-AP). Analysis of 37,542 individuals excluded a major contribution of loss-of-function variants to TRPC6-AP, legitimating current drug discovery approaches. This study identifies key features of disease that can help intervention studies design and suggests similarities...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 39352759
DOI: 10.1681/asn.0000000501

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