Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.T2183_E2184delFs
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PKD1

NM_001009944.3:p.T2183_E2184delFs

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

Comprehensive strategy improves the genetic diagnosis of different polycystic kidney diseases.

Hu HY et al.

Journal of Cellular and Molecular Medicine, 2021

Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.

Kim H et al.

Scientific Reports, 2019

31740684 (PubMed )
Supplement: 41598_2019_52474_MOESM1_ESM.pdf
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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."