Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.T2183_E2184insFs
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PKD1

NM_001009944.3:p.T2183_E2184insFs

Associated Papers

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

Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).

Hoefele J et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2011

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.

Rossetti S et al.

Journal of the American Society of Nephrology : Jasn, 2007

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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."