Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB6
Variant:p.P96L
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DNAJB6

NM_058246.4:p.P96L

Associated Papers

Multiplex neurodegeneration proteotoxicity platform reveals DNAJB6 promotes non-toxic FUS condensate gelation and inhibits neurotoxicity.

Resnick SJ et al.

Nature Communications, 2025

41271702 (PubMed )
Supplement: 41467_2025_65178_MOESM13_ESM.pdf

LGMDD1 natural history and phenotypic spectrum: Implications for clinical trials.

Findlay AR et al.

Annals of Clinical and Translational Neurology, 2023

Case Report: A Novel Splice-Site Mutation in DNAJB6 Associated With Juvenile-Onset Proximal-Distal Myopathy in a Chinese Patient.

Ji G et al.

Frontiers in Genetics, 2022

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

Sarparanta J et al.

International Journal of Molecular Sciences, 2020

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

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

A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.

Monies D et al.

Human Genomics, 2016

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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."