Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB2
Variant:p.R62W
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DNAJB2

NM_006736.6:p.R62W

Associated Papers

Neuromuscular disorders with evidence of both neuropathic and myopathic phenotype.

Laurini C et al.

Brain : a Journal of Neurology, 2025

Extension of the DNAJB2a isoform in a dominant neuromyopathy family.

Sarparanta J et al.

Human Molecular Genetics, 2023

The roles of HSP40/DNAJ protein family in neurodegenerative diseases.

He Y et al.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2022

Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy.

Wu C et al.

Annals of Clinical and Translational Neurology, 2022

DNAJB2 c.184C>T mutation associated with distal hereditary motor neuropathy with rimmed vacuolar myopathy.

Liu M et al.

Clinical Neuropathology, 0

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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."