Varaico: Literature-Extracted Genetic Variants

Gene:CTC1
Variant:p.G724_L727del4
Back to variants list

CTC1

NM_025099.6:p.G724_L727del4

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

Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1.

Riquelme J et al.

Hormone Research in Paediatrics, 2021

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

Anderson BH et al.

Nature Genetics, 2012

Coats Plus Syndrome in a Premature Infant, With a Focus on Management.

Sears AE et al.

Journal of Vitreoretinal Diseases, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."