Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.T2424M
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PKD1

NM_001009944.3:p.T2424M

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

In vivo base editing reduces liver cysts in autosomal dominant polycystic kidney disease.

Ibel A et al.

Biorxiv : the Preprint Server for Biology, 2025

Reclassification of Variants Following Renal Genetics Testing: Uncommon Yet Impactful for Diagnosis and Management.

Lim E et al.

Kidney International Reports, 2024

38707809 (PubMed )
Supplement: mmc1.pdf

Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Carrera P et al.

Scientific Reports, 2016

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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."