Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.I2872delFs
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PKD1

NM_001009944.3:p.I2872delFs

Associated Papers

New Variants Identified by Next-Generation Sequencing in Polycystic Kidney Disease Patients.

Ozyavuz Cubuk P et al.

Biochemical Genetics, 2024

A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.

Lindemann CH et al.

Kidney International Reports, 2023

36938073 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.

Obeidova L et al.

Bmc Medical Genetics, 2014

Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

Rossetti S et al.

Journal of the American Society of Nephrology : Jasn, 2012

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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."