Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB2
Variant:p.G77Splc
Back to variants list

DNAJB2

NM_006736.6:p.G77Splc

Associated Papers

Structural-functional relevance of DNAJBs in protein aggregation and associated neurodegenerative diseases.

Fatima S et al.

Biochimica Et Biophysica Acta. Proteins and Proteomics, 2025

Extension of the DNAJB2a isoform in a dominant neuromyopathy family.

Sarparanta J et al.

Human Molecular Genetics, 2023

Comprehensive Mutation Analysis and Report of 12 Novel Mutations in a Cohort of Patients with Spinal Muscular Atrophy in Iran.

Sharifi Z et al.

Journal of Molecular Neuroscience : Mn, 2021

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

Sarparanta J et al.

International Journal of Molecular Sciences, 2020

Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism.

Sanchez E et al.

Human Mutation, 2016

Reply: The role of DNAJB2 in amyotrophic lateral sclerosis.

Chen HJ et al.

Brain : a Journal of Neurology, 2016

Chaperonopathies: Spotlight on Hereditary Motor Neuropathies.

Lupo V et al.

Frontiers in Molecular Biosciences, 2016

HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.

Gess B et al.

Neurology, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."