Varaico: Literature-Extracted Genetic Variants

Gene:CTC1
Variant:p.K242fs
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CTC1

NM_025099.6:p.K242fs

Associated Papers

Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders.

Niewisch MR et al.

Jama Network Open, 2024

39661387 (PubMed )
Supplement: jamanetwopen-e2450111-s001.pdf

Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences.

Burren OS et al.

Nature Genetics, 2024

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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