Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB4
Variant:p.R183*
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DNAJB4

NM_007034.5:p.R183*

Associated Papers

Homozygous DNAJB4 deletion revealing myopathy with acute respiratory failure.

Chitimus DM et al.

Revue Neurologique, 2025

Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle.

Inoue M

Journal of Human Genetics, 2025

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

Fatima S et al.

Biochimica Et Biophysica Acta. Proteins and Proteomics, 2025

Genotype‒phenotype correlation in recessive DNAJB4 myopathy.

Inoue M et al.

Acta Neuropathologica Communications, 2024

Genotype-phenotype correlation in recessive DNAJB4 myopathy.

Inoue M et al.

Research Square, 2024

Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.

Song H et al.

Journal of Medical Genetics, 2021

32546565 (PubMed )
Supplement: jmedgenet-2019-106739supp001.xlsx › Supp._Table_3
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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."