Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB11
Variant:p.R34*
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DNAJB11

NM_016306.6:p.R34*

Associated Papers

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

Characterization of Monogenic Kidney Disease in Older Patients With CKD.

Elhassan EAE et al.

Kidney International Reports, 2025

40677324 (PubMed )
Supplement: mmc1.pdf

Phenotypic outcomes of PKD1 compared with non-PKD1 genetically confirmed autosomal dominant polycystic kidney disease.

Elhassan EAE et al.

Journal of Nephrology, 2025

More dissimilarities than affinities between DNAJB11-PKD and ADPKD.

Pisani I et al.

Clinical Kidney Journal, 2022

Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease.

Huynh VT et al.

Kidney International, 2020

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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."