Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.S1352N
Back to variants list

PKD1

NM_001009944.3:p.S1352N

Associated Papers

Prenatal-Onset Autosomal Dominant Polycystic Kidney Disease: Clinical Spectrum and Genetic Complexity of a Pseudo-Recessive Phenotype.

Sharova M et al.

Prenatal Diagnosis, 2026

Mutation Analysis of PKD1 and PKD2 Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including a Novel Complex Rearrangement.

Orisio S et al.

Nephron, 2024

An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.

Eisenberger T et al.

Plos One, 2015

25646624 (PubMed )
Supplement: pone.0116680.s016.pdf

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.

Rossetti S et al.

Journal of the American Society of Nephrology : Jasn, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."