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A Case Series of TERC Variant Telomere Biology Disorders in Unrelated Families From Atlantic Canada
TERC variant telomere biology disorders (TBDs) are a rare, heterogenous group of disorders that arise from germline variants in TERC, a gene that encodes for the RNA component of telomerase. Variants in TERC lead to accelerated telomere attrition and can manifest as many different phenotypes. In thi...
Autores principales: | Harrigan, Amye M., MacDonald, Shelley, Crooks, Bruce, Dyack, Sarah, Trottier, Amy M. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elmer Press
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8256918/ https://www.ncbi.nlm.nih.gov/pubmed/34267850 http://dx.doi.org/10.14740/jh826 |
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