Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.S843P
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PKD1

NM_001009944.3:p.S843P

Associated Papers

[Application of single-sperm sequencing technology in preimplantation genetic testing for men with autosomal dominant polycystic kidney disease].

Deng TQ et al.

Zhonghua Nan Ke Xue = National Journal of Andrology, 2022

Genetic testing, ultrasonography and preimplantation genetic testing of men with autosomal dominant polycystic kidney disease in Hunan, China.

Li W et al.

Andrologia, 2022

Generation of induced pluripotent stem cell PLAFMCi002-A derived from peripheral blood mononuclear cells of polycystic kidney disease patient with PKD1 mutation.

Wang T et al.

Stem Cell Research, 2020

Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.

Wang T et al.

Molecular Genetics & Genomic Medicine, 2019

Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.

He WB et al.

Bmc Medical Genetics, 2018

Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System.

Kinoshita M et al.

Plos One, 2016

27835667 (PubMed )
Supplement: pone.0166288.s005.xls › S3_Table
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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."