Varaico: Literature-Extracted Genetic Variants

Gene:CTC1
Variant:p.R1195*
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CTC1

NM_025099.6:p.R1195*

Associated Papers

Impact of germline CTC1 alterations on telomere length in acquired bone marrow failure.

Shen W et al.

British Journal of Haematology, 2019

Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus.

Gu P et al.

Aging Cell, 2013

Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.

Polvi A et al.

American Journal of Human Genetics, 2012

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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."