Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.I452V
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PKD2

NM_000297.4:p.I452V

Associated Papers

Prenatal Diagnosis and Postnatal Outcomes of Fetal ADPKD: A Single-Center Retrospective Cohort Study.

Kim S et al.

Medicina (kaunas, Lithuania), 2025

Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.

Liu S et al.

Chinese Medical Journal, 2019

31764169 (PubMed )
Supplement: cm9-132-3001-s001.xlsx › Supplementary_Table_1

Mutational screening of PKD2 gene in the north Indian polycystic kidney disease patients revealed 28 genetic variations.

Raj S et al.

Journal of Genetics, 2017

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

PKD2 gene mutation analysis in Korean autosomal dominant polycystic kidney disease patients using two-dimensional gene scanning.

Chung W et al.

Clinical Genetics, 2006

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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."