Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.Y1599insFs
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PKD1

NM_001009944.3:p.Y1599insFs

Associated Papers

Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts.

Cristalli CP et al.

Genes, 2025

40428294 (PubMed )
Supplement: genes-16-00472-s001.zip › TableS2.xlsx › TableS2

Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients.

Suzuki Y et al.

Genes, 2023

Detection of PKD1 and PKD2 Somatic Variants in Autosomal Dominant Polycystic Kidney Cyst Epithelial Cells by Whole-Genome Sequencing.

Zhang Z et al.

Journal of the American Society of Nephrology : Jasn, 2021

Genetic testing in the assessment of living related kidney donors at risk of autosomal dominant polycystic kidney disease.

Simms RJ et al.

Transplantation, 2015

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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."