Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.T2192_S2194delFs
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PKD1

NM_001009944.3:p.T2192_S2194delFs

Associated Papers

Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.

Giovanella S et al.

Clinical Genetics, 2026

40533884 (PubMed )
Supplement: CGE-109-136-s001.docx

Enhanced MCP-1 Release in Early Autosomal Dominant Polycystic Kidney Disease.

Janssens P et al.

Kidney International Reports, 2021

34169210 (PubMed )
Supplement: mmc1.pdf

Fundamental insights into autosomal dominant polycystic kidney disease from human-based cell models.

Weydert C et al.

Pediatric Nephrology (berlin, Germany), 2019

Factors influencing the clinical outcome of preimplantation genetic testing for polycystic kidney disease.

Berckmoes V et al.

Human Reproduction (oxford, England), 2019

Novel Mutations in the PKD1 and PKD2 Genes of Chinese Patients with Autosomal Dominant Polycystic Kidney Disease.

Xu D et al.

Kidney & Blood Pressure Research, 2018

Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.

Liu Y et al.

Plos One, 2015

Polycystin-1 but not polycystin-2 deficiency causes upregulation of the mTOR pathway and can be synergistically targeted with rapamycin and metformin.

Mekahli D et al.

Pflugers Archiv : European Journal of Physiology, 2014

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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."