Varaico: Literature-Extracted Genetic Variants

Gene:GCSH
Variant:p.V82F
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GCSH

NM_004483.5:p.V82F

Associated Papers

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.

Bomont P et al.

Nature Genetics, 2000

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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."