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Avradeep Karmakar

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Articles

Pathogenic variants in the human TONSL protein associated with SPONASTRIME dysplasia impair protein dimerization and DNA repair

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By Guobin Yu, Ruoqi Liu, Siddhartha Roy, Avradeep Karmakar
| Science Magazine Verified
Abstract INTRODUCTION RESULTS DISCUSSION MATERIALS AND METHODS Acknowledgments REFERENCES Information & Authors Metrics & Citations View Options References Figures Tables Media Share Abstract TONSL safeguards genome stability by facilitating replication-dependent DNA damage repair and protecting stalled replication forks through homologous recombination. Mutations in TONSL cause SPONASTRIME dysplasia, a rare skeletal disorder.
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