Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.E2810*
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PKD1

NM_001009944.3:p.E2810*

Associated Papers

Targeted Next Generation Sequencing Revealed Novel Variants in the PKD1 and PKD2 Genes of Iranian Patients with Autosomal Dominant Polycystic Kidney Disease.

Hosseinpour M et al.

Archives of Iranian Medicine, 2022

Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.

Al-Hamed MH et al.

Pediatric Nephrology (berlin, Germany), 2019

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-s4.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

Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease.

Chang MY et al.

Journal of Human Genetics, 2013

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

How segmental duplications shape our genome: recent evolution of ABCC6 and PKD1 Mendelian disease genes.

Symmons O et al.

Molecular Biology and Evolution, 2008

Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.

Inoue S et al.

Human Mutation, 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."