Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.N2167D
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PKD1

NM_001009944.3:p.N2167D

Associated Papers

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.

Mantovani V et al.

Frontiers in Genetics, 2020

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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