Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.S2244fs
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PKD1

NM_001009944.3:p.S2244fs

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

Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.

Tapper EE et al.

Kidney Medicine, 2026

41509997 (PubMed )
Supplement: mmc1.xlsx › Table_S3-_Positive_SNV___indel

Magnetic resonance imaging based kidney volume assessment for risk stratification in pediatric autosomal dominant polycystic kidney disease.

Yilmaz K et al.

Frontiers in Pediatrics, 2024

38464892 (PubMed )
Supplement: Table1.xlsx › Sayfa1

Congenital Hepatic Fibrosis as an Early Sign of Presentation of ADPKD.

Sila L et al.

Balkan Journal of Medical Genetics : Bjmg, 2023

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.

Mantovani V et al.

Frontiers in Genetics, 2020

32457805 (PubMed )
Supplement: Data_Sheet_1.PDF

Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Carrera P et al.

Scientific Reports, 2016

27499327 (PubMed )
Supplement: srep30850-s4.xlsx › Sheet1

Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease.

Yu C et al.

Bmc Medical Genetics, 2011

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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."