Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB6
Variant:p.F100V
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DNAJB6

NM_058246.4:p.F100V

Associated Papers

Tertiary structure and conformational dynamics of the anti-amyloidogenic chaperone DNAJB6b at atomistic resolution.

Adupa V et al.

Nature Communications, 2024

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

Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations.

Kim K et al.

Yonsei Medical Journal, 2018

A novel DNAJB6 mutation causes dominantly inherited distal-onset myopathy and compromises DNAJB6 function.

Tsai PC et al.

Clinical Genetics, 2017

DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies.

Ruggieri A et al.

Frontiers in Molecular Biosciences, 2016

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.

Ruggieri A et al.

Acta Neuropathologica Communications, 2015

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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."