Work

Genotype-Phenotype Characterization of PKD1 Missense Variants in ADPKD: Insights from Structural Imaging Biomarkers

Year: 2025

Type: article

Study design: Observational Study

Source: Journal of the American Society of Nephrology

DOI: 10.1681/asn.2025m0qx0bbm

Authors: Marie Therese Bou Antoun, Abdul Hamid Borghol, Fadi George Munairdjy Debeh, Ahmad Ghanem, Adriana Gregory, Hana Yang, Rachel S. Schauer, Christian Hanna, Timothy L. Kline, Peter C. Harris, Fouad T. Chebib

Institutions: Mayo Clinic in Florida, Mayo Clinic

Language: English

Topic: Genetic and Kidney Cyst Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4415475322

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