Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.S812_E813insFs
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PKD2

NM_000297.4:p.S812_E813insFs

Associated Papers

Preimplantation genetic testing for monogenic disorders (PGT-M) for monogenic nephropathy: a single-center retrospective cohort analysis.

Liu X et al.

Clinical Kidney Journal, 2025

39802589 (PubMed )
Supplement: sfae356_supplemental_file.pdf

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

Mutations of the human polycystic kidney disease 2 (PKD2) gene.

Deltas CC

Human Mutation, 2001

A novel frameshift mutation (2436insT) produces an immediate stop codon in the autosomal dominant polycystic kidney disease 2 (PKD2) gene.

Iglesias DM et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2000

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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."