Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB6
Variant:p.E54K
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DNAJB6

NM_058246.4:p.E54K

Associated Papers

Mutations in Hsp40 co-chaperone change the canonical interdomain interactions stimulating LGMDD1 myopathy.

Bhadra AK et al.

The Journal of Biological Chemistry, 2026

Mutations in Hsp40 co-chaperone change the unique canonical inter-domain interactions stimulating LGMDD1 myopathy.

Bhadra AK et al.

Biorxiv : the Preprint Server for Biology, 2025

LGMDD1 natural history and phenotypic spectrum: Implications for clinical trials.

Findlay AR et al.

Annals of Clinical and Translational Neurology, 2023

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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."