Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.L845*
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PKD1

NM_001009944.3:p.L845*

Associated Papers

Characterization of Monogenic Kidney Disease in Older Patients With CKD.

Elhassan EAE et al.

Kidney International Reports, 2025

40677324 (PubMed )
Supplement: mmc1.pdf

Familial Variability of Disease Severity in Adult Patients With ADPKD.

Elhassan EAE et al.

Kidney International Reports, 2024

38481516 (PubMed )
Supplement: mmc1.pdf

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

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

Hu HY et al.

Journal of Cellular and Molecular Medicine, 2021

The genetic landscape of polycystic kidney disease in Ireland.

Benson KA et al.

European Journal of Human Genetics : Ejhg, 2021

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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."