Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.Q1696*
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PKD1

NM_001009944.3:p.Q1696*

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

Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.

Tapper EE et al.

Kidney Medicine, 2026

41509997 (PubMed )
Supplement: mmc1.xlsx › Table_S3-_Positive_SNV___indel

Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype-Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease.

Ercoskun P et al.

Clinical Genetics, 2025

In vivo base editing reduces liver cysts in autosomal dominant polycystic kidney disease.

Ibel A et al.

Biorxiv : the Preprint Server for Biology, 2025

Analysis of mutations in six Chinese families with autosomal dominant polycystic kidney disease.

Wang H et al.

American Journal of Translational Research, 2020

Factors influencing the clinical outcome of preimplantation genetic testing for polycystic kidney disease.

Berckmoes V et al.

Human Reproduction (oxford, England), 2019

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.

Rossetti S et al.

Journal of the American Society of Nephrology : Jasn, 2007

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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."