Varaico: Literature-Extracted Genetic Variants

Gene:HSPB8
Variant:p.W51insFs
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HSPB8

NM_014365.3:p.W51insFs

Associated Papers

New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy.

Al-Tahan S et al.

Neurology. Genetics, 2019

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

Ghaoui R et al.

Neurology, 2016

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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."