Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.R2024C
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PKD1

NM_001009944.3:p.R2024C

Associated Papers

Coincidence of autosomal dominant polycystic kidney disease and Alport syndrome: a case report and literature review.

Liu R et al.

Cen Case Reports, 2026

Monogenic Causes in Familial Stroke Across Intracerebral Hemorrhage and Ischemic Stroke Subtypes Identified by Whole-Exome Sequencing.

Chang LH et al.

Cellular and Molecular Neurobiology, 2023

Diagnostic application of exome sequencing in Chinese children with suspected inherited kidney diseases.

Gao M et al.

Frontiers in Genetics, 2022

Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease.

Liu B et al.

Scientific Reports, 2015

26632257 (PubMed )
Supplement: srep17468-s1.doc

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

Eisenberger T et al.

Plos One, 2015

25646624 (PubMed )
Supplement: pone.0116680.s016.pdf
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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."