Varaico: Literature-Extracted Genetic Variants

Gene:CIC
Variant:p.E398*
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CIC

NM_001386298.1:p.E398*

Associated Papers

Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor.

Rees MI et al.

Human Molecular Genetics, 1994

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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."