Varaico: Literature-Extracted Genetic Variants

Gene:HSPB8
Variant:p.R22W
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HSPB8

NM_014365.3:p.R22W

Associated Papers

A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy.

Miyabayashi T et al.

Journal of Human Genetics, 2019

Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.

Fabrizi GM et al.

Brain : a Journal of Neurology, 2007

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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."