Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.A69fs
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PKD2

NM_000297.4:p.A69fs

Associated Papers

Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.

Giovanella S et al.

Clinical Genetics, 2026

40533884 (PubMed )
Supplement: CGE-109-136-s001.docx

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises.

Watson D et al.

American Journal of Medical Genetics. Part A, 2025

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

Detection of PKD1 and PKD2 Somatic Variants in Autosomal Dominant Polycystic Kidney Cyst Epithelial Cells by Whole-Genome Sequencing.

Zhang Z et al.

Journal of the American Society of Nephrology : Jasn, 2021

PKD2 gene variants in Chinese patients with autosomal dominant polycystic kidney disease.

Xu D et al.

Clinical Genetics, 2021

Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes.

Schönauer R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32398770 (PubMed )
Supplement: 41436_2020_816_MOESM1_ESM.docx

Identification of novel mutations and risk assessment of Han Chinese patients with autosomal dominant polycystic kidney disease.

Zhang M et al.

Nephrology (carlton, Vic.), 2019

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