Varaico: Literature-Extracted Genetic Variants

Gene:HSPB1
Variant:p.P159delFs
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HSPB1

NM_001540.5:p.P159delFs

Associated Papers

Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy.

Wu C et al.

Annals of Clinical and Translational Neurology, 2022

Chaperonopathies: Spotlight on Hereditary Motor Neuropathies.

Lupo V et al.

Frontiers in Molecular Biosciences, 2016

The family of mammalian small heat shock proteins (HSPBs): implications in protein deposit diseases and motor neuropathies.

Boncoraglio A et al.

The International Journal of Biochemistry & Cell Biology, 2012

Alteration of protein folding and degradation in motor neuron diseases: Implications and protective functions of small heat shock proteins.

Carra S et al.

Progress in Neurobiology, 2012

Severe neuropathy after diphtheria-tetanus-pertussis vaccination in a child carrying a novel frame-shift mutation in the small heat-shock protein 27 gene.

Mandich P et al.

Journal of Child Neurology, 2010

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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."