Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.V2944F
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PKD1

NM_001009944.3:p.V2944F

Associated Papers

Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.

Vaisitti T et al.

Journal of Nephrology, 2021

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."