Associated Papers
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Boonsawat P et al.
Npj Genomic Medicine, 2022
35906228 (PubMed )
Supplement: 41525_2022_316_MOESM3_ESM.xlsx › Supplementary_Table_4b
Impact of germline CTC1 alterations on telomere length in acquired bone marrow failure.
Shen W et al.
British Journal of Haematology, 2019
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
Anderson BH et al.
Nature Genetics, 2012
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