Varaico: Literature-Extracted Genetic Variants

Gene:CTC1
Variant:p.Y689C
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CTC1

NM_025099.6:p.Y689C

Associated Papers

Novel biallelic missense mutations in CTC1 gene identified in a Chinese family with Coats plus syndrome.

Lin H et al.

Journal of the Neurological Sciences, 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."