Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB2
Variant:p.V49delFs
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DNAJB2

NM_006736.6:p.V49delFs

Associated Papers

Broadening the Clinical Spectrum of Axonal Hereditary Neuropathies: A Comparative Case Study on DNAJB2- and HINT1-Related Disease.

Bjelica B et al.

Journal of the Peripheral Nervous System : Jpns, 2026

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

DNAJB2-related Charcot-Marie-Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening.

Saveri P et al.

European Journal of Neurology, 2022

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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."