Genetic & Genomic MedicineJournal of Clinical InvestigationPeer-reviewed
Polygenic modifiers of expressivity in telomere biology disorders
Michael Poeschla, Uma P. Arora, Amanda J. Walne…·Vijay G. Sankaran
This study identifies polygenic modifiers of expressivity in telomere biology disorders by showing how common and rare genetic variants interact to influence clinical variability.
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