Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.F2096C
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PKD1

NM_001009944.3:p.F2096C

Associated Papers

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

Prediction of Renal Prognosis in Patients with Autosomal Dominant Polycystic Kidney Disease Using PKD1/PKD2 Mutations.

Kataoka H et al.

Journal of Clinical Medicine, 2020

31948117 (PubMed )
Supplement: jcm-09-00146-s001.pdf

Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany.

Neumann HP et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2013

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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."