Varaico: Literature-Extracted Genetic Variants

Gene:CTC1
Variant:p.S1004Splc
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CTC1

NM_025099.6:p.S1004Splc

Associated Papers

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

Shen W et al.

British Journal of Haematology, 2019

Mutations in the telomere capping complex in bone marrow failure and related syndromes.

Walne AJ et al.

Haematologica, 2013

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.

Anderson BH et al.

Nature 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."