Associated Papers
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_14.xlsx › Sheet1
Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report.
Lee HY et al.
Bmc Medical Genomics, 2021
Two novel variants in the ATM gene causing ataxia-telangiectasia, including a duplication of 90 kb: Utility of targeted next-generation sequencing in detection of copy number variation.
Martin-Rodriguez S et al.
Annals of Human Genetics, 2019
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