Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.D720insFs
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PKD1

NM_001009944.3:p.D720insFs

Associated Papers

Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Carrera P et al.

Scientific Reports, 2016

Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease.

Hwang YH et al.

Journal of the American Society of Nephrology : Jasn, 2016

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.

Rossetti S et al.

Journal of the American Society of Nephrology : Jasn, 2007

Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.

Magistroni R et al.

Journal of the American Society of Nephrology : Jasn, 2003

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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."