Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC7
Variant:p.R156*
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DNAJC7

NM_003315.4:p.R156*

Associated Papers

Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.

Wu G et al.

Translational Neurodegeneration, 2025

41152957 (PubMed )
Supplement: 40035_2025_516_MOESM3_ESM.xlsx › TableS2b_pathogenic_URVs

The ALS-associated co-chaperone DNAJC7 mediates neuroprotection against proteotoxic stress by modulating HSF1 activity.

Fleming AC et al.

Biorxiv : the Preprint Server for Biology, 2024

Rare DNAJC7 Variants May Play a Minor Role in Chinese Patients with ALS.

Wang S et al.

Molecular Neurobiology, 2024

Recent Updates on the Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.

Kirola L et al.

Molecular Neurobiology, 2022

DnaJC7 in Amyotrophic Lateral Sclerosis.

Dilliott AA et al.

International Journal of Molecular Sciences, 2022

Rapid progressive ALS in a patient with a DNAJC7 loss-of-function mutation.

Jih KY et al.

Neurology. Genetics, 2020

Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia.

Ranganathan R et al.

Frontiers in Neuroscience, 2020

A Novel Potentially Pathogenic Rare Variant in the DNAJC7 Gene Identified in Amyotrophic Lateral Sclerosis Patients From Mainland China.

Wang M et al.

Frontiers in Genetics, 2020

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.

Farhan SMK et al.

Nature Neuroscience, 2019

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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."