Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.W293*
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PKD2

NM_000297.4:p.W293*

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

Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts.

Cristalli CP et al.

Genes, 2025

40428294 (PubMed )
Supplement: genes-16-00472-s001.zip › TableS2.xlsx › TableS2

Importance of IFT140 in Patients with Polycystic Kidney Disease Without a Family History.

Fujimaru T et al.

Kidney International Reports, 2024

39291187 (PubMed )
Supplement: mmc1.pdf

Genetic Analysis of Severe Polycystic Liver Disease in Japan.

Mizuno H et al.

Kidney360, 2024

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