Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB6
Variant:p.S57L
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DNAJB6

NM_058246.4:p.S57L

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

Mutations in the J domain of DNAJB6 cause dominant distal myopathy.

Palmio J et al.

Neuromuscular Disorders : Nmd, 2020

Client processing is altered by novel myopathy-causing mutations in the HSP40 J domain.

Pullen MY et al.

Plos One, 2020

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

Savarese M et al.

Acta Neuropathologica Communications, 2014

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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."