Varaico: Literature-Extracted Genetic Variants

Gene:CTC1
Variant:p.L1196_R1202del7
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CTC1

NM_025099.6:p.L1196_R1202del7

Associated Papers

Molecular basis of telomere dysfunction in human genetic diseases.

Sarek G et al.

Nature Structural & Molecular Biology, 2015

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

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."