Varaico: Literature-Extracted Genetic Variants

Gene:CSTB
Variant:p.H75fs
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CSTB

NM_000100.4:p.H75fs

Associated Papers

Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB.

O'Brien A et al.

European Journal of Human Genetics : Ejhg, 2017

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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."