Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB6
Variant:p.N95I
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DNAJB6

NM_058246.4:p.N95I

Associated Papers

DNAJB6 mutants display toxic gain of function through unregulated interaction with Hsp70 chaperones.

Abayev-Avraham M et al.

Nature Communications, 2023

Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.

Sarparanta J et al.

International Journal of Molecular Sciences, 2020

Genotypic and Phenotypic Heterogeneity of LGMD1D due to DNAJB6 Mutations.

Finsterer J

Yonsei Medical Journal, 2018

The Author Reply: Genotypic and Phenotypic Heterogeneity of LGMD1D due to DNAJB6 Mutations.

Kim K et al.

Yonsei Medical Journal, 2018

LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation.

Bohlega SA et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2018

Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort.

Carvalho AAS et al.

Genetic Testing and Molecular Biomarkers, 2018

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families.

Jonson PH et al.

European Journal of Neurology, 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."