Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.L1499L
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PKD1

NM_001009944.3:p.L1499L

Associated Papers

Prevalence and outcomes of polycystic kidney disease in African populations: A systematic review.

Ndongo M et al.

World Journal of Nephrology, 2024

Case Report: A Novel Pathomechanism in PEComa by the Loss of Heterozygosity of TP53.

Butz H et al.

Frontiers in Oncology, 2022

35419288 (PubMed )
Supplement: Table_1.xlsx › exome_variants_MAF_0.01

Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene.

Abdelwahed M et al.

Gene, 2018

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

27499327 (PubMed )
Supplement: srep30850-s2.xlsx › Sheet1

An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.

Eisenberger T et al.

Plos One, 2015

25646624 (PubMed )
Supplement: pone.0116680.s014.pdf

Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.

Tan AY et al.

The Journal of Molecular Diagnostics : Jmd, 2014

Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.

Tan YC et al.

Human Mutation, 2009

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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."