Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.G2474insFs
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PKD1

NM_001009944.3:p.G2474insFs

Associated Papers

The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.

Claus LR et al.

Kidney International Reports, 2024

39291214 (PubMed )
Supplement: mmc1.xlsx › S2a._Diagnostic_cohort

Targeted Next Generation Sequencing Revealed Novel Variants in the PKD1 and PKD2 Genes of Iranian Patients with Autosomal Dominant Polycystic Kidney Disease.

Hosseinpour M et al.

Archives of Iranian Medicine, 2022

37543885 (PubMed )
Supplement: aim-25-600-s003.xlsx › PKD1_2__PKHD1

Prediction of Renal Prognosis in Patients with Autosomal Dominant Polycystic Kidney Disease Using PKD1/PKD2 Mutations.

Kataoka H et al.

Journal of Clinical Medicine, 2020

31948117 (PubMed )
Supplement: jcm-09-00146-s001.pdf

Molecular Genetic Diagnosis of Omani Patients With Inherited Cystic Kidney Disease.

Al Alawi I et al.

Kidney International Reports, 2019

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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."