Varaico: Literature-Extracted Genetic Variants

Gene:CTC1
Variant:p.L247P
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CTC1

NM_025099.6:p.L247P

Associated Papers

The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.

Tummala H et al.

Embo Molecular Medicine, 2024

39198715 (PubMed )
Supplement: 44321_2024_118_MOESM4_ESM.xlsx › Dataset_EV1

Structural Features of Nucleoprotein CST/Shelterin Complex Involved in the Telomere Maintenance and Its Association with Disease Mutations.

Amir M et al.

Cells, 2020

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

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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."