Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.P2085_S2086insC
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PKD1

NM_001009944.3:p.P2085_S2086insC

Associated Papers

Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.

Liu Y et al.

Plos One, 2015

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

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."