Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB11
Variant:p.P54R
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DNAJB11

NM_016306.6:p.P54R

Associated Papers

The role of the co-chaperone DNAJB11 in polycystic kidney disease: Molecular mechanisms and cellular origin of cyst formation.

Busch T et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024

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

Huynh VT et al.

Kidney International, 2020

Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease.

Cornec-Le Gall E et al.

American Journal of Human Genetics, 2018

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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."