Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.C2195_R2197delFs
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PKD1

NM_001009944.3:p.C2195_R2197delFs

Associated Papers

Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.

Vaisitti T et al.

Journal of Nephrology, 2021

Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Carrera P et al.

Scientific Reports, 2016

Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.

Trujillano D et al.

Molecular Genetics & Genomic Medicine, 2014

Adult patients with sporadic polycystic kidney disease: the importance of screening for mutations in the PKD1 and PKD2 genes.

Neumann HP et al.

International Urology and Nephrology, 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."