Varaico: Literature-Extracted Genetic Variants

Gene:COL14A1
Variant:p.I208T
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COL14A1

NM_021110.4:p.I208T

Associated Papers

A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy.

Hallmann K et al.

Neurology, 2014

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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."