Work

Comparative PKD1 and PKD2 Missense Variant Profiling Aids Molecular Diagnoses and Reveals Common Pathomechanisms and Variant Subtypes across the ADPKD Spectrum

Year: 2024

Type: article

Source: Journal of the American Society of Nephrology

DOI: 10.1681/asn.202471vvcgzj

Authors: Cynthia J. Sieben, Vladimir G. Gainullin, Christina M. Heyer, Doaa E. Elbarougy, Sarah R. Senum, Zhifei Wang, Xiaobo Sun, Hana Yang, Ines Sturmlechner, Yong Yu, Peter C. Harris

Institutions: Mayo Clinic, Exact Sciences (United States), St. John's University

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: W4403833246

FWCI:

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