Key Points A patient with a severe form of telomere biology disorder has compound heterozygous variants in TERT that interact functionally. The functional interaction between alleles explains the much more… Click to show full abstract
Key Points A patient with a severe form of telomere biology disorder has compound heterozygous variants in TERT that interact functionally. The functional interaction between alleles explains the much more extreme phenotype in the proband compared with his heterozygous parents.
Keywords:
biology disorder;
compound heterozygous;
telomere biology;
functional interaction;
biology
Journal Title: Blood Advances
Year Published: 2022
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Journal Title: Blood Advances
Year Published: 2022
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!