Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.A2758_I2762del0
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PKD1

NM_001009944.3:p.A2758_I2762del0

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

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

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

Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases.

Nigro E et al.

Genes, 2023

37372416 (PubMed )
Supplement: genes-14-01236-s001.zip › Supplementary_Tables_S2-S5.pdf

Adult patients with sporadic polycystic kidney disease: the importance of screening for mutations in the PKD1 and PKD2 genes.

Neumann HP et al.

International Urology and Nephrology, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."