Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.G450D
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PKD2

NM_000297.4:p.G450D

Associated Papers

Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.

Tapper EE et al.

Kidney Medicine, 2026

41509997 (PubMed )
Supplement: mmc1.xlsx › Table_S3-_Positive_SNV___indel

The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease.

Dahl NK et al.

Journal of the American Society of Nephrology : Jasn, 2023

37794564 (PubMed )
Supplement: jasn-34-2039-s001.pdf

Clinical Characteristics and Courses of Patients With Autosomal Recessive Polycystic Kidney Disease-Mimicking Phenocopies.

Halawi AA et al.

Kidney International Reports, 2023

37441483 (PubMed )
Supplement: mmc1.pdf
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