Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.G317E
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PKD2

NM_000297.4:p.G317E

Associated Papers

Mutation Analysis of PKD1 and PKD2 Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including a Novel Complex Rearrangement.

Orisio S et al.

Nephron, 2024

A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.

Lindemann CH et al.

Kidney International Reports, 2023

36938073 (PubMed )
Supplement: mmc1.xlsx › Sheet1
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