Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.E1811K
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PKD1

NM_001009944.3:p.E1811K

Associated Papers

A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases.

Bullich G et al.

Kidney International, 2018

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.

Rossetti S et al.

Journal of the American Society of Nephrology : Jasn, 2007

Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.

Rossetti S et al.

Lancet (london, England), 2003

A complete mutation screen of the ADPKD genes by DHPLC.

Rossetti S et al.

Kidney International, 2002

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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."