Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.S1448F
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PKD1

NM_001009944.3:p.S1448F

Associated Papers

Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney Disease.

Xu D et al.

Clinical Chemistry, 2024

Comprehensive strategy improves the genetic diagnosis of different polycystic kidney diseases.

Hu HY et al.

Journal of Cellular and Molecular Medicine, 2021

Molecular subtyping and genomic profiling expand precision medicine in refractory metastatic triple-negative breast cancer: the FUTURE trial.

Jiang YZ et al.

Cell Research, 2021

32719455 (PubMed )
Supplement: 41422_2020_375_MOESM12_ESM.xlsx › Sheet1

Association of Rare Nonsynonymous Variants in PKD1 and PKD2 with Familial Intracranial Aneurysms in a Japanese Population.

Hirota K et al.

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2016

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."