Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB4
Variant:p.K35N
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DNAJB4

NM_007034.5:p.K35N

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

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

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